ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)

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Total submissions: 2
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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 RCV000760197 SCV000890026 uncertain significance X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 2017-03-24 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760289 SCV000890130 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2017-04-28 criteria provided, single submitter clinical testing

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