ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.360C>T (p.Tyr120=)

dbSNP: rs1574381304
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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 RCV001496274 SCV001700971 likely benign Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2018-05-10 criteria provided, single submitter clinical testing

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