Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000325577 | SCV000465202 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000363965 | SCV000465203 | likely benign | Epidermolysis bullosa simplex due to plakophilin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000276100 | SCV000465204 | likely benign | Lethal acantholytic epidermolysis bullosa | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000333470 | SCV000465205 | likely benign | Woolly hair-skin fragility syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712091 | SCV000512886 | likely benign | not provided | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000471148 | SCV000555772 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777765 | SCV000913732 | benign | Cardiomyopathy | 2018-07-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000429989 | SCV001159923 | benign | not specified | 2019-01-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000429989 | SCV001821470 | benign | not specified | 2021-08-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392918 | SCV002670799 | likely benign | Cardiovascular phenotype | 2022-08-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
All of Us Research Program, |
RCV003995901 | SCV004819230 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001712091 | SCV005222758 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003932480 | SCV004749951 | likely benign | DSP-related disorder | 2019-07-03 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |