Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001767649 | SCV001998562 | uncertain significance | not provided | 2019-11-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 |
Fulgent Genetics, |
RCV002488571 | SCV002777677 | 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 | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001767649 | SCV004703418 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |