ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly)

dbSNP: rs61348633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001731187 SCV000036009 pathogenic Epidermolysis bullosa simplex 2A, generalized severe 1992-03-19 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056562 SCV000087673 not provided not provided no assertion provided not provided

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