Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707582 | SCV000836683 | uncertain significance | Hypohidrotic X-linked ectodermal dysplasia | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 33 of the EDA protein (p.Arg33Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EDA-related conditions. 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. |
Natera, |
RCV000707582 | SCV002087190 | uncertain significance | Hypohidrotic X-linked ectodermal dysplasia | 2021-04-27 | no assertion criteria provided | clinical testing |