Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179667 | SCV000231951 | uncertain significance | not provided | 2014-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643486 | SCV000765173 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503693 | SCV002815277 | 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 | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000179667 | SCV003821772 | uncertain significance | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179667 | SCV004031040 | uncertain significance | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Not observed at significant frequency in large population cohorts (gnomAD) |