ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760279 SCV000890119 uncertain significance X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 2017-07-05 criteria provided, single submitter clinical testing

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