Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474985 | SCV000542711 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765555 | SCV000896870 | 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 |
RCV000997414 | SCV001794025 | likely benign | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25997934, 17344846) |