ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)

gnomAD frequency: 0.00398  dbSNP: rs62622817
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230777 SCV000287856 benign Familial meningioma 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573486 SCV000664982 likely benign Hereditary cancer-predisposing syndrome 2018-12-28 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.
GeneDx RCV001689758 SCV001912221 benign not provided 2019-03-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27149204, 23198860)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316259 SCV004015530 benign Rhabdoid tumor predisposition syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001689758 SCV004138285 benign not provided 2023-03-01 criteria provided, single submitter clinical testing SMARCE1: BS1, BS2

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