ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.954C>T (p.Ile318=)

gnomAD frequency: 0.00005  dbSNP: rs376628666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547157 SCV000637339 benign Familial meningioma 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019477 SCV001180840 likely benign Hereditary cancer-predisposing syndrome 2018-07-04 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.
PreventionGenetics, part of Exact Sciences RCV003942786 SCV004757587 likely benign SMARCE1-related disorder 2023-02-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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