ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)

dbSNP: rs60586163
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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 RCV001352776 SCV001547406 pathogenic Epidermolysis bullosa simplex 2014-11-12 criteria provided, single submitter research
OMIM RCV001731295 SCV000036015 pathogenic Epidermolysis bullosa simplex 2C, localized 1996-01-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056632 SCV000087745 not provided not provided no assertion provided not provided

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