ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)

dbSNP: rs1555948969
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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 RCV000497470 SCV001438708 pathogenic Cornelia de Lange syndrome 5 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Goettingen RCV000497470 SCV000590819 likely pathogenic Cornelia de Lange syndrome 5 2017-08-17 no assertion criteria provided clinical testing Cornelia de Lange syndrome

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