ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.732C>G (p.Asp244Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004457550 SCV004956101 likely benign Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Reproductive Endocrine Unit, Massachusetts General Hospital RCV004587596 SCV005077747 likely benign Hypogonadotropic hypogonadism 2024-06-25 criteria provided, single submitter research PP2,BP4,BP5,2BP
Fulgent Genetics, Fulgent Genetics RCV005023537 SCV005658645 likely benign Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 2024-03-14 criteria provided, single submitter clinical testing

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