ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.539C>T (p.Ala180Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714558 SCV000845259 uncertain significance Pachyonychia congenita 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714559 SCV000845260 uncertain significance Localized epidermolytic hyperkeratosis 2018-08-07 criteria provided, single submitter clinical testing

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