ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4806C>T (p.Ala1602=)

dbSNP: rs1890302137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV001201141 SCV001372187 likely benign not specified 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PM2, BP4, BP7
Genetic Services Laboratory, University of Chicago RCV001201141 SCV002071915 uncertain significance not specified 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339497 SCV002634741 likely benign Hereditary cancer-predisposing syndrome 2020-07-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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