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NM_177438.3(DICER1):c.3405dup (p.Gly1136fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 30, 2021)
Last evaluated:
Jul 1, 2019
Accession:
VCV000932982.3
Variation ID:
932982
Description:
1bp duplication
#
SCV Submitter Clinical significance Review status Collection method Number of
individuals
Number of
families
Interpreted condition
(Affected status)
Allele origin Clinical features
(Affected status)
Comments on
clinical features
Indication for testing Zygosity Citations Links Comments on
clinical significance
Comments on
evidence
Family history Segregation
observed
Age Sex Ethnicity/Population
group
Geographic origin Tissue Secondary finding Study name Method Result Testing laboratory Testing laboratory
interpretation
Date interpretation
reported to submitter
1 SCV001482288.1 Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf Likely pathogenic criteria provided,
single submitter
research Hereditary cancer-predisposing syndrome (yes ) paternal 1 Single Heterozygote no
1 SCV001371917.2 Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research Pathogenic criteria provided,
single submitter
curation 1 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (yes ) germline PubMed: 27896549 ACMG criteria met: PVS1, PM2, PP4