Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220546 | SCV000270923 | likely benign | not specified | 2017-03-09 | criteria provided, single submitter | clinical testing | p.Thr134Thr in Exon 5 of TMEM43: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 8/16512 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs370422391). |
Invitae | RCV000531859 | SCV000642098 | likely benign | Arrhythmogenic right ventricular dysplasia 5 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777831 | SCV000913830 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000220546 | SCV001363394 | benign | not specified | 2019-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372221 | SCV002625614 | likely benign | Cardiovascular phenotype | 2022-04-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Fulgent Genetics, |
RCV002500701 | SCV002803725 | likely benign | Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000220546 | SCV001979229 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001729462 | SCV001979616 | likely benign | not provided | no assertion criteria provided | clinical testing |