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GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 2, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001194523.1

Allele description [Variation Report for GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3]

GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3

Genes:
  • CLDN17:claudin 17 [Gene - OMIM - HGNC]
  • CLDN8:claudin 8 [Gene - OMIM - HGNC]
  • GRIK1:glutamate ionotropic receptor kainate type subunit 1 [Gene - OMIM - HGNC]
  • KRTAP13-1:keratin associated protein 13-1 [Gene - OMIM - HGNC]
  • KRTAP13-2:keratin associated protein 13-2 [Gene - HGNC]
  • KRTAP13-3:keratin associated protein 13-3 [Gene - HGNC]
  • KRTAP13-4:keratin associated protein 13-4 [Gene - HGNC]
  • KRTAP15-1:keratin associated protein 15-1 [Gene - HGNC]
  • KRTAP19-1:keratin associated protein 19-1 [Gene - HGNC]
  • KRTAP19-2:keratin associated protein 19-2 [Gene - HGNC]
  • KRTAP19-3:keratin associated protein 19-3 [Gene - HGNC]
  • KRTAP19-4:keratin associated protein 19-4 [Gene - HGNC]
  • KRTAP19-5:keratin associated protein 19-5 [Gene - HGNC]
  • KRTAP19-6:keratin associated protein 19-6 [Gene - HGNC]
  • KRTAP19-7:keratin associated protein 19-7 [Gene - HGNC]
  • KRTAP20-1:keratin associated protein 20-1 [Gene - HGNC]
  • KRTAP20-2:keratin associated protein 20-2 [Gene - HGNC]
  • KRTAP20-4:keratin associated protein 20-4 [Gene - HGNC]
  • KRTAP22-1:keratin associated protein 22-1 [Gene - HGNC]
  • KRTAP22-2:keratin associated protein 22-2 [Gene - HGNC]
  • KRTAP23-1:keratin associated protein 23-1 [Gene - HGNC]
  • KRTAP24-1:keratin associated protein 24-1 [Gene - OMIM - HGNC]
  • KRTAP25-1:keratin associated protein 25-1 [Gene - HGNC]
  • KRTAP26-1:keratin associated protein 26-1 [Gene - HGNC]
  • KRTAP27-1:keratin associated protein 27-1 [Gene - HGNC]
  • KRTAP6-1:keratin associated protein 6-1 [Gene - HGNC]
  • KRTAP6-2:keratin associated protein 6-2 [Gene - HGNC]
  • KRTAP6-3:keratin associated protein 6-3 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
21q21.3-22.11
Genomic location:
Chr21: 31172702 - 32008007 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001364155Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Uncertain significance
    (Apr 2, 2019)     		unknownclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364155.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedAmniocytesnot provided1not provided1not provided

    Last Updated: Apr 23, 2022