ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=)

gnomAD frequency: 0.00066  dbSNP: rs148666451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473606 SCV000557778 benign Familial meningioma 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017312 SCV001178379 likely benign Hereditary cancer-predisposing syndrome 2018-03-12 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 RCV003925344 SCV004748897 likely benign SMARCE1-related disorder 2019-06-12 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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