Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643511 | SCV000765198 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566439 | SCV001789954 | uncertain significance | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001566439 | SCV003823624 | uncertain significance | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150315 | SCV003838566 | uncertain significance | Cardiomyopathy | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323653 | SCV004029882 | uncertain significance | not specified | 2023-07-30 | criteria provided, single submitter | clinical testing |