Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000117083 | SCV000307975 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000117083 | SCV000530689 | likely benign | not specified | 2017-05-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000541257 | SCV000651175 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002262707 | SCV002545565 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | FLNC: BS1 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117083 | SCV004038060 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486653 | SCV004240678 | benign | Cardiomyopathy | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117083 | SCV000151225 | 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, |
RCV000117083 | SCV001917265 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000117083 | SCV001930561 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117083 | SCV001967016 | benign | not specified | no assertion criteria provided | clinical testing |