ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.556C>T (p.Gln186Ter)

dbSNP: rs1367505804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788504 SCV001712159 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2021-05-13 no assertion criteria provided clinical testing

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