ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2574G>T (p.Thr858=)

dbSNP: rs760653330
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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 RCV001455056 SCV001658801 likely benign Rhabdoid tumor predisposition syndrome 2 2021-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431356 SCV002743088 likely benign Hereditary cancer-predisposing syndrome 2020-10-13 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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