ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)

dbSNP: rs886041005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hehr Laboratory, Center for Human Genetics Regensburg RCV000258329 SCV000328440 likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2016-07-21 no assertion criteria provided clinical testing

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