ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1119G>A (p.Thr373=)

gnomAD frequency: 0.00016  dbSNP: rs144939741
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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 RCV001411665 SCV001613728 likely benign Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2020-03-23 criteria provided, single submitter clinical testing

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