ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs)

dbSNP: rs2125504267
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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 RCV002274465 SCV002559189 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis criteria provided, single submitter clinical testing

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