Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632903 | SCV000754108 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263857 | SCV002543288 | likely benign | Autoinflammatory syndrome | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV003326140 | SCV004032437 | uncertain significance | Pityriasis rubra pilaris | criteria provided, single submitter | clinical testing | CARD14 is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Potent mutations in Card14 have been shown to be associated with familial pustular psoriasis and other cutaneous inflammatory conditions like Pytriasis rubra pilaris. However, the role of rs372790630 is yet to be ascertained. |