Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000251994 | SCV000318370 | uncertain significance | Cardiovascular phenotype | 2013-03-06 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Invitae | RCV000469472 | SCV000542767 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001589298 | SCV001823302 | uncertain significance | not provided | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487141 | SCV002790294 | 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 | 2021-09-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001589298 | SCV004225848 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing |