ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.418dup (p.Ile140fs)

dbSNP: rs61348424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056587 SCV003805499 pathogenic not provided 2023-02-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20222933, 22437315, 16465624, 32382646, 31449063, 25284854, 21422339, 29882260)
OMIM RCV000015762 SCV000036027 pathogenic Dowling-Degos disease 1 2010-07-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056587 SCV000087700 not provided not provided no assertion provided not provided

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