Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001767648 | SCV001998561 | uncertain significance | not provided | 2019-11-22 | 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, |
RCV002477960 | SCV002779672 | 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 | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001767648 | SCV003825427 | uncertain significance | not provided | 2021-01-12 | criteria provided, single submitter | clinical testing |