Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179113 | SCV000231310 | uncertain significance | not provided | 2014-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643531 | SCV000765218 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492786 | SCV002782660 | 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 | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000179113 | SCV003818416 | uncertain significance | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179113 | SCV004031039 | 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 |