Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000585773 | SCV000693700 | likely pathogenic | Visceral myopathy | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Wangler Lab, |
RCV000585773 | SCV000995020 | pathogenic | Visceral myopathy | 2019-10-04 | no assertion criteria provided | case-control | Identified as a de novo event in our clinical cohort of MMIHS |