Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000811356 | SCV000951617 | uncertain significance | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 2018-11-07 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the EDAR gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a EDAR-related disease. Experimental studies are not available for this variant, and the functional significance of a copy number gain of this gene is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Invitae | RCV001374279 | SCV001571088 | uncertain significance | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 2021-09-16 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the EDAR gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with EDAR-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |