Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841968 | SCV000983959 | likely benign | not provided | 2018-04-27 | 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. |
Invitae | RCV001085218 | SCV001007584 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001664480 | SCV001880227 | benign | not specified | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840746 | SCV002099895 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840747 | SCV002099896 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840748 | SCV002099897 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840745 | SCV002099898 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000841968 | SCV004702823 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |