ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.556G>T (p.Val186Leu)

dbSNP: rs121912475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352726 SCV001547403 pathogenic Epidermolysis bullosa simplex 2015-05-04 criteria provided, single submitter research
OMIM RCV001731298 SCV000036023 pathogenic Epidermolysis bullosa simplex 2B, generalized intermediate 2001-06-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056625 SCV000087738 not provided not provided no assertion provided not provided

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