ClinVar Miner

Submissions for variant NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)

dbSNP: rs587777001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049297 SCV000077554 pathogenic Scalp-ear-nipple syndrome 2013-04-04 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000049297 SCV000281687 pathogenic Scalp-ear-nipple syndrome 2014-01-29 no assertion criteria provided research

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