Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001527342 | SCV001738313 | uncertain significance | not provided | 2019-07-18 | 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 |
Fulgent Genetics, |
RCV002495849 | SCV002794284 | 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 | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001527342 | SCV003825595 | uncertain significance | not provided | 2019-06-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331177 | SCV004038659 | uncertain significance | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |