ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.596A>T (p.Lys199Met)

dbSNP: rs58766676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001823714 SCV002073365 pathogenic Epidermolysis bullosa 2021-11-03 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056640 SCV000087753 not provided not provided no assertion provided not provided

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