ClinVar Miner

Submissions for variant NC_000002.11:g.(?_108604612)_(109579739_?)del

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Total submissions: 1
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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.

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