Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039379 | SCV000063063 | benign | not specified | 2012-05-10 | criteria provided, single submitter | clinical testing | 163-14C>T in intron 2 of TMEM43: This variant is not expected to have clinical s ignificance because it has been identified in 8% (302/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs113745859) |
Gene |
RCV000039379 | SCV000168987 | benign | not specified | 2013-07-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Preventiongenetics, |
RCV000039379 | SCV000314284 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Color Diagnostics, |
RCV000030553 | SCV000910880 | benign | Cardiomyopathy | 2018-03-26 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001528438 | SCV001157467 | benign | not provided | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054526 | SCV002363830 | benign | Arrhythmogenic right ventricular dysplasia 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490426 | SCV002798374 | benign | Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030553 | SCV000053224 | benign | Cardiomyopathy | 2015-06-02 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV001528438 | SCV001740189 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000039379 | SCV001919259 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000039379 | SCV001926704 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000039379 | SCV001959157 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000039379 | SCV001967904 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000030553 | SCV003802993 | benign | Cardiomyopathy | 2022-09-23 | no assertion criteria provided | clinical testing |