Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002253275 | SCV000237248 | uncertain significance | not provided | 2022-05-31 | 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 |
Fulgent Genetics, |
RCV002478639 | SCV002776494 | 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 | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002253275 | SCV004152403 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |