ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2781C>T (p.Phe927=)

dbSNP: rs1425800122
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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 RCV002191616 SCV002490311 likely benign Rhabdoid tumor predisposition syndrome 2 2020-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948650 SCV005506452 likely benign Hereditary cancer-predisposing syndrome 2024-09-02 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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