ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.92del (p.Ile31fs) (rs60231560)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015729 SCV000035994 pathogenic Epidermolysis bullosa simplex, autosomal recessive 2000-09-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056760 SCV000087873 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics, University of Washington RCV001291416 SCV001479917 likely pathogenic Sjögren-Larsson syndrome no assertion criteria provided research

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