Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001510633 | SCV001717724 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264112 | SCV002543600 | likely benign | Autoinflammatory syndrome | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003424499 | SCV004116896 | uncertain significance | CARD14-related disorder | 2023-10-03 | criteria provided, single submitter | clinical testing | The CARD14 c.1091C>T variant is predicted to result in the amino acid substitution p.Ala364Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.39% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-78165123-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |