ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.904-5del

dbSNP: rs769549511
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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 RCV000468555 SCV000563379 likely benign DICER1-related tumor predisposition 2024-12-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256315 SCV002533089 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-17 criteria provided, single submitter curation
Ambry Genetics RCV002256315 SCV004063930 likely benign Hereditary cancer-predisposing syndrome 2023-06-27 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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