ClinVar Miner

Submissions for variant NM_005634.3(SOX3):c.791T>G (p.Val264Gly)

dbSNP: rs1927323032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331445 SCV001523487 uncertain significance Intellectual disability, X-linked, with panhypopituitarism 2019-12-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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