ClinVar Miner

Submissions for variant NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)

dbSNP: rs1237876014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000766198 SCV001194264 uncertain significance Dyschromatosis universalis hereditaria 1 2019-10-18 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Dyschromatosis universalis hereditaria 1, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM1-Supporting.
OMIM RCV000766198 SCV000897629 pathogenic Dyschromatosis universalis hereditaria 1 2019-03-29 no assertion criteria provided literature only

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