ClinVar Miner

Submissions for variant NM_001387283.1(SMARCA4):c.4179A>G (p.Thr1393=)

dbSNP: rs1600445198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001404560 SCV001606462 likely benign Rhabdoid tumor predisposition syndrome 2 2023-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329434 SCV002630519 likely benign Hereditary cancer-predisposing syndrome 2021-12-16 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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