ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2925C>T (p.Phe975=)

gnomAD frequency: 0.00001  dbSNP: rs376805784
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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 RCV000463937 SCV000559305 likely benign Rhabdoid tumor predisposition syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017515 SCV001178604 likely benign Hereditary cancer-predisposing syndrome 2015-10-13 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.
GeneDx RCV003168900 SCV003915402 uncertain significance not provided 2022-10-06 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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