Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670539 | SCV000795401 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2017-11-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000670539 | SCV004201015 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2022-07-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000670539 | SCV000029476 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2000-02-01 | no assertion criteria provided | literature only |