Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept. |
RCV000855453 | SCV000930010 | likely pathogenic | Perrault syndrome 1 | 2018-10-01 | no assertion criteria provided | research | Variant seen as a homozygous variant in affected individual from one family with Perrault syndrome |
OMIM | RCV001824882 | SCV002074559 | pathogenic | Combined oxidative phosphorylation deficiency 54 | 2024-03-11 | no assertion criteria provided | literature only |