ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)

dbSNP: rs1597749796
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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 RCV001400562 SCV001602367 likely benign Familial meningioma 2020-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363298 SCV002661172 likely benign Hereditary cancer-predisposing syndrome 2020-11-16 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.
Revvity Omics, Revvity RCV003141883 SCV003823985 uncertain significance Coffin-Siris syndrome 5 2019-05-27 criteria provided, single submitter clinical testing

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