ClinVar Miner

Submissions for variant NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)

dbSNP: rs1562489224
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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 RCV000766194 SCV001194265 likely pathogenic Dyschromatosis universalis hereditaria 1 2019-10-18 criteria provided, single submitter curation This variant is interpreted as Likely pathogenic for Dyschromatosis universalis hereditaria 1, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PS3.
OMIM RCV000766194 SCV000897625 pathogenic Dyschromatosis universalis hereditaria 1 2019-03-29 no assertion criteria provided literature only

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