ClinVar Miner

Submissions for variant NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter) (rs387906896)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000023407 SCV000266554 pathogenic Familial acne inversa 1 criteria provided, single submitter research
OMIM RCV000023407 SCV000044698 pathogenic Familial acne inversa 1 2010-11-19 no assertion criteria provided literature only

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