ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=)

gnomAD frequency: 0.00004  dbSNP: rs767262463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530957 SCV000637315 likely benign Familial meningioma 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561677 SCV000675244 likely benign Hereditary cancer-predisposing syndrome 2017-08-31 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 RCV001093344 SCV001250276 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SMARCE1: BP4, BP7
GeneDx RCV001093344 SCV003853049 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316703 SCV004015529 likely benign Rhabdoid tumor predisposition syndrome 1 2023-07-07 criteria provided, single submitter clinical testing

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