ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)

dbSNP: rs1559662068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000761594 SCV000891755 likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2018-08-31 criteria provided, single submitter research ACMG codes: PVS1, PM2

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