Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698337 | SCV000535244 | benign | not provided | 2018-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000544773 | SCV000650992 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451049 | SCV002616328 | benign | Cardiovascular phenotype | 2019-01-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421795 | SCV004222925 | benign | not specified | 2023-11-20 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486843 | SCV004240641 | benign | Cardiomyopathy | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003899896 | SCV004708793 | benign | FLNC-related disorder | 2019-04-08 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Genetics, |
RCV000421795 | SCV001924332 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000421795 | SCV001929357 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000421795 | SCV001973852 | benign | not specified | no assertion criteria provided | clinical testing |