Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525757 | SCV000642996 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000596112 | SCV000709391 | likely benign | not specified | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596112 | SCV000719894 | likely benign | not specified | 2017-06-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV001840656 | SCV002101444 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840657 | SCV002101445 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840658 | SCV002101446 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840655 | SCV002101765 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |