ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1989A>G (p.Glu663=)

gnomAD frequency: 0.00001  dbSNP: rs780138299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568345 SCV000675182 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001392450 SCV001594093 likely benign Rhabdoid tumor predisposition syndrome 2 2023-07-17 criteria provided, single submitter clinical testing

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