ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.762G>A (p.Glu254=)

gnomAD frequency: 0.00003  dbSNP: rs374977780
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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 RCV000538733 SCV000637333 likely benign Familial meningioma 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026643 SCV001189066 likely benign Hereditary cancer-predisposing syndrome 2019-04-10 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316704 SCV004015532 likely benign Rhabdoid tumor predisposition syndrome 1 2023-07-07 criteria provided, single submitter clinical testing

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