Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535173 | SCV000651000 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682809 | SCV001904122 | benign | not provided | 2018-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345417 | SCV002623009 | likely benign | Cardiovascular phenotype | 2019-01-16 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486651 | SCV004240644 | benign | Cardiomyopathy | 2023-04-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117071 | SCV000151213 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Clinical Genetics, |
RCV000117071 | SCV001920627 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000117071 | SCV001929237 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117071 | SCV001966568 | benign | not specified | no assertion criteria provided | clinical testing |