Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001528404 | SCV002770568 | uncertain significance | not provided | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488348 | SCV002780697 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2022-04-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001528404 | SCV003819726 | uncertain significance | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001528404 | SCV004036913 | uncertain significance | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Diagnostic Laboratory, |
RCV001528404 | SCV001740102 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001528404 | SCV001800271 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001528404 | SCV001921831 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528404 | SCV001976146 | uncertain significance | not provided | no assertion criteria provided | clinical testing |