ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3173A>T (p.His1058Leu)

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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 RCV000760286 SCV000890127 uncertain significance Kleefstra syndrome 1 2018-01-05 criteria provided, single submitter clinical testing

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