Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000392895 | SCV000341057 | uncertain significance | not provided | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088299 | SCV001020507 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563802 | SCV001786835 | likely benign | Miyoshi muscular dystrophy 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001271786 | SCV001786836 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563803 | SCV001786837 | likely benign | Distal myopathy with anterior tibial onset | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271786 | SCV001453226 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-06-02 | no assertion criteria provided | clinical testing |