Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000009255 | SCV003827607 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-11-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009255 | SCV000029473 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 1996-12-01 | no assertion criteria provided | literature only |