Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002226600 | SCV002505593 | uncertain significance | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2022-04-08 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PM2_SUP, PP3 |