ClinVar Miner

Submissions for variant NM_000223.4(KRT12):c.385A>G (p.Met129Val)

dbSNP: rs267607387
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623893 SCV000742223 likely pathogenic Inborn genetic diseases 2017-02-22 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056416 SCV000087525 not provided not provided no assertion provided not provided

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