ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)

dbSNP: rs113070757
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114296 SCV000147855 benign not specified 2013-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312020 SCV000846034 benign Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001668223 SCV001890459 benign not provided 2019-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001668223 SCV002401639 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490760 SCV002796507 benign Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 2022-03-30 criteria provided, single submitter clinical testing

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