Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MVZ Medizinische Genetik Mainz | RCV004598367 | SCV005091153 | uncertain significance | X-linked progressive cerebellar ataxia | 2024-06-25 | criteria provided, single submitter | clinical testing | ACMG Criteria: PP3_MOD,PM2_SUP,PP2 |