ClinVar Miner

Submissions for variant NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) (rs57802288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000007239 SCV000267382 likely pathogenic Beaded hair 2016-03-18 criteria provided, single submitter reference population
OMIM RCV000007239 SCV000027435 pathogenic Beaded hair 2005-03-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056954 SCV000088067 not provided not provided no assertion provided not provided

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