Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003111475 | SCV003791895 | pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 2022-05-16 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the EDAR gene has been identified. Loss-of-function variants in EDAR are known to be pathogenic (PMID: 10431241, 10431242, 20979233, 28981473). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of EDAR have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 18854857). For these reasons, this variant has been classified as Pathogenic. |