ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg)

dbSNP: rs2076901423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251695 SCV001427436 likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2019-01-01 no assertion criteria provided clinical testing

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