Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080330 | SCV000651130 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000597579 | SCV000705067 | uncertain significance | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597579 | SCV001824480 | likely benign | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26582918) |
Ambry Genetics | RCV002367920 | SCV002665029 | benign | Cardiovascular phenotype | 2019-04-25 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486881 | SCV004240672 | benign | Cardiomyopathy | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915597 | SCV004735948 | benign | FLNC-related disorder | 2019-05-21 | 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, |
RCV001729638 | SCV001979148 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000597579 | SCV001980312 | likely benign | not provided | no assertion criteria provided | clinical testing |