ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)

dbSNP: rs267607468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007986 SCV005636829 likely pathogenic Pachyonychia congenita 3 2024-03-29 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056986 SCV000088099 not provided not provided no assertion provided not provided

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