Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665577 | SCV000789723 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000964699 | SCV001111932 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002460905 | SCV002756501 | likely benign | not provided | 2019-01-23 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |