Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV003494560 | SCV004244358 | likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3 | 2024-01-23 | criteria provided, single submitter | clinical testing | Criteria applied: PP4_STR, PM3, PM2_SUP; Identified as compund heterozygous with NM_014489.4:c.146C>T |