ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.633C>T (p.Gly211=)

dbSNP: rs533417666
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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 RCV002127037 SCV002409826 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002127037 SCV005243588 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895797 SCV004723489 likely benign SOX11-related disorder 2019-03-07 no assertion criteria provided 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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