ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.701A>G (p.Glu234Gly)

gnomAD frequency: 0.00002  dbSNP: rs751660162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839092 SCV002098996 uncertain significance Intellectual disability, autosomal dominant 27 2021-05-14 criteria provided, single submitter clinical testing
GeneDx RCV003313234 SCV004012457 uncertain significance not provided 2023-01-04 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

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