ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2793T>C (p.Val931=)

gnomAD frequency: 0.00001  dbSNP: rs1595378761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016617 SCV001177587 likely benign Hereditary cancer-predisposing syndrome 2018-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV002068937 SCV002340882 likely benign DICER1-related tumor predisposition 2024-01-09 criteria provided, single submitter clinical testing

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