ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.709C>G (p.Leu237Val)

gnomAD frequency: 0.00056  dbSNP: rs140772793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500849 SCV000597224 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001764496 SCV002000206 uncertain significance not provided 2021-06-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001764496 SCV003282289 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902795 SCV004723036 likely benign SOX11-related disorder 2023-10-31 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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