Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001563907 | SCV001786965 | uncertain significance | Miyoshi muscular dystrophy 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563908 | SCV001786966 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563909 | SCV001786967 | uncertain significance | Distal myopathy with anterior tibial onset | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002569021 | SCV003470272 | benign | Qualitative or quantitative defects of dysferlin | 2023-11-12 | criteria provided, single submitter | clinical testing |