Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003472680 | SCV004201002 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-03-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003472680 | SCV004238352 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-02-13 | criteria provided, single submitter | clinical testing |