ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) (rs786205042)

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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 RCV000170288 SCV001250620 pathogenic Rett syndrome criteria provided, single submitter clinical testing
RettBASE RCV000170288 SCV000222621 pathogenic Rett syndrome 2013-12-05 no assertion criteria provided curation

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