ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249625 SCV001423702 uncertain significance X-linked mental retardation with marfanoid habitus syndrome; FG syndrome 1; Ohdo syndrome, X-linked 2018-01-19 criteria provided, single submitter clinical testing [ACMG/AMP: PM2, PP3] This alteration is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3].

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