Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232321 | SCV000286620 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-02-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000834738 | SCV000976509 | likely benign | not provided | 2018-06-14 | 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. |
Athena Diagnostics | RCV001289371 | SCV001477132 | benign | not specified | 2019-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840405 | SCV002101298 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840406 | SCV002101299 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840407 | SCV002101300 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840404 | SCV002101301 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |