Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884086 | SCV001027441 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001199262 | SCV001370325 | uncertain significance | Hypertrophic cardiomyopathy 26 | 2019-05-16 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply. |
Gene |
RCV001530834 | SCV001745737 | likely benign | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22806379) |
Ambry Genetics | RCV002372507 | SCV002671469 | likely benign | Cardiovascular phenotype | 2019-06-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Revvity Omics, |
RCV001530834 | SCV003833214 | uncertain significance | not provided | 2020-09-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486942 | SCV004240675 | likely benign | Cardiomyopathy | 2023-04-03 | criteria provided, single submitter | clinical testing |