ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3111C>G (p.Leu1037=)

dbSNP: rs1488681878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416206 SCV001618384 likely benign DICER1-related tumor predisposition 2025-01-13 criteria provided, single submitter clinical testing
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge RCV004821310 SCV005442460 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-19 criteria provided, single submitter clinical testing PM2_supporting, BP4
Ambry Genetics RCV004821310 SCV005566097 likely benign Hereditary cancer-predisposing syndrome 2024-09-08 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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