Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411494 | SCV000486692 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2016-07-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000729946 | SCV000857649 | pathogenic | not provided | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000411494 | SCV004201014 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2022-08-23 | criteria provided, single submitter | clinical testing |