ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1017C>A (p.Val339=)

dbSNP: rs201434694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538950 SCV000637957 likely benign Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2019-09-05 criteria provided, single submitter clinical testing

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