Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728014 | SCV000855532 | uncertain significance | not provided | 2017-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728014 | SCV002571401 | uncertain significance | not provided | 2022-03-03 | 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, |
RCV002477680 | SCV002781146 | 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 | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000728014 | SCV003821767 | uncertain significance | not provided | 2021-11-24 | criteria provided, single submitter | clinical testing |