ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Sep 3, 2022
- Most recent Submission:
- Sep 3, 2022
- Accession:
- VCV001703636.1
- Variation ID:
- 1703636
- Description:
- copy number loss
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GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704)
- Allele ID
- 1696027
- Variant type
- copy number loss
- Variant length
- -
- Cytogenetic location
- 1q42.11-42.12
- Genomic location
- 1: 224432682-225142704 (GRCh37) GRCh37 UCSC
- HGVS
- -
- Protein change
- -
- Other names
- -
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | - | RCV002280724.1 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 185 | |
| CNIH3 | - | - | - |
GRCh38 GRCh37 |
12 | 52 |
| CNIH4 | - | - |
GRCh38 GRCh37 |
5 | 47 | |
| DNAH14 | - | - |
GRCh38 GRCh37 |
294 | 332 | |
| NVL | - | - |
GRCh38 GRCh37 |
17 | 61 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002568989.1
First in ClinVar: Sep 03, 2022 Last updated: Sep 03, 2022 |
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Sep 03, 2022