ClinVar Miner

Submissions for variant NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) (rs77688767)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490508 SCV000267383 uncertain significance Epidermolytic palmoplantar keratoderma 2016-03-18 criteria provided, single submitter reference population
Mendelics RCV000490508 SCV001140439 uncertain significance Epidermolytic palmoplantar keratoderma 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490508 SCV001286095 likely benign Epidermolytic palmoplantar keratoderma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056446 SCV000087555 not provided not provided no assertion provided not provided

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