Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648011 | SCV000769821 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563807 | SCV001786841 | uncertain significance | Miyoshi muscular dystrophy 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563808 | SCV001786842 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563809 | SCV001786843 | uncertain significance | Distal myopathy with anterior tibial onset | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001563808 | SCV002082346 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |