ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)

dbSNP: rs58293603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015710 SCV000035975 pathogenic Pachyonychia congenita 1 2000-06-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057034 SCV000088147 not provided not provided no assertion provided not provided

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