Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001711351 | SCV000236136 | likely benign | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28087566) |
Laboratory for Molecular Medicine, |
RCV000213635 | SCV000270615 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Met540Val in exon 12 of NEXN: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (16/3034) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS;). |
Invitae | RCV000547608 | SCV000648479 | benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618620 | SCV000737367 | likely benign | Cardiovascular phenotype | 2018-06-19 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170733 | SCV001333336 | benign | Cardiomyopathy | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000213635 | SCV004038703 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000213635 | SCV001923065 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001711351 | SCV001973495 | likely benign | not provided | no assertion criteria provided | clinical testing |