Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595362 | SCV000708273 | uncertain significance | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483644 | SCV002785930 | 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 | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595362 | SCV004025639 | uncertain significance | not provided | 2023-02-07 | 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 |
Revvity Omics, |
RCV000595362 | SCV004237453 | uncertain significance | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing |