ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1950A>G (p.Glu650=)

dbSNP: rs1052555853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013723 SCV001174346 likely benign Hereditary cancer-predisposing syndrome 2019-11-07 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 RCV002068875 SCV002469944 likely benign Rhabdoid tumor predisposition syndrome 2 2020-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003425881 SCV004139558 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SMARCA4: PM2:Supporting, BP4, BP7

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