Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178575 | SCV000230684 | uncertain significance | not provided | 2016-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079331 | SCV000649711 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000178575 | SCV002063873 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | DYSF: BP4, BP7 |
Natera, |
RCV001835707 | SCV002082353 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-02-21 | no assertion criteria provided | clinical testing |