ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.324T>C (p.Thr108=)

dbSNP: rs1597746306
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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 RCV001019430 SCV001180788 likely benign Hereditary cancer-predisposing syndrome 2019-10-28 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.
CeGaT Center for Human Genetics Tuebingen RCV003425883 SCV004138293 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SMARCE1: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003769513 SCV004671815 likely benign Familial meningioma 2023-03-27 criteria provided, single submitter clinical testing

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