ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1495del (p.Ala499fs)

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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 RCV000760267 SCV000890104 pathogenic Kleefstra syndrome 1 2017-10-20 criteria provided, single submitter clinical testing

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