Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533668 | SCV000642735 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000728768 | SCV000729096 | uncertain significance | not provided | 2019-11-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown |
Eurofins Ntd Llc |
RCV000728768 | SCV000856381 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491031 | SCV002779829 | 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 | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000728768 | SCV003819194 | uncertain significance | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing |