ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.17del (p.Arg6fs)

dbSNP: rs267607390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015730 SCV000035995 pathogenic Naegeli-Franceschetti-Jadassohn syndrome 2006-10-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056695 SCV000087808 not provided not provided no assertion provided not provided

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