ClinVar Miner

Submissions for variant NM_014587.5(SOX8):c.711G>A (p.Gln237=)

gnomAD frequency: 0.00387  dbSNP: rs183697287
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963721 SCV001110892 benign not provided 2018-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963721 SCV004133614 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SOX8: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000963721 SCV005294437 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003970841 SCV004791754 likely benign SOX8-related disorder 2019-05-01 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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