ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.567del (p.Asp190fs)

dbSNP: rs1057519516
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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 RCV000417029 SCV000890017 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2017-11-07 criteria provided, single submitter clinical testing
OMIM RCV000417029 SCV000494481 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2017-07-19 no assertion criteria provided literature only

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