Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591041 | SCV000708080 | uncertain significance | not provided | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643755 | SCV000765442 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765595 | SCV000896910 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591041 | SCV000982214 | likely benign | not provided | 2020-06-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30819905) |
Revvity Omics, |
RCV000591041 | SCV003821061 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150296 | SCV003838066 | benign | Cardiomyopathy | 2022-04-19 | criteria provided, single submitter | clinical testing |