ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys)

dbSNP: rs1018963624
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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 RCV001788540 SCV001712186 pathogenic Koolen-de Vries syndrome 2021-05-13 no assertion criteria provided clinical testing

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