Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000576484 | SCV000660444 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I | no assertion criteria provided | clinical testing | This is detected in trans with the pathogenic variant NM_024301.4:c.826C>A . |