Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454417 | SCV000538582 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Invitae | RCV001516553 | SCV001724849 | benign | Pityriasis rubra pilaris; Psoriasis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001539478 | SCV001757262 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27706581, 26249641, 31994212, 23905699, 26854129, 30018619, 23143594) |
Genome- |
RCV001554351 | SCV001775573 | benign | Pityriasis rubra pilaris | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554352 | SCV001775574 | benign | Psoriasis 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263690 | SCV002543272 | benign | Autoinflammatory syndrome | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV001554351 | SCV004032434 | likely pathogenic | Pityriasis rubra pilaris | 2024-02-21 | 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. Sufficient evidence is found to confer the association of this particular variant rs11652075 with psoriasis.This variant is found to be a potent moderate impact, deleterious variant with a CADD score of 20.9 and sufficient scientific evidence to support the reported classification. This is found more frequently in psoriasis as per recent evidence as well. |
Unidad de Genómica Garrahan, |
RCV000454417 | SCV004102017 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 60% of patients studied by a panel of primary immunodeficiencies. Number of patients: 58. Only high quality variants are reported. |
Genome |
RCV001539478 | SCV002074582 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. |