ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)

dbSNP: rs2105371700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV002279876 SCV002567930 uncertain significance Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2022-08-22 criteria provided, single submitter clinical testing

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