ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro)

dbSNP: rs267607462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056990 SCV000321842 pathogenic not provided 2023-01-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31823354, 34116063, 19416275, 24611874)
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056990 SCV000088103 not provided not provided no assertion provided not provided

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