ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.557T>A (p.Val186Glu)

dbSNP: rs267607457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352774 SCV001547404 pathogenic Epidermolysis bullosa simplex 2018-07-19 criteria provided, single submitter research
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056626 SCV000087739 not provided not provided no assertion provided not provided

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