Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV000856772 | SCV000999326 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 3 | criteria provided, single submitter | clinical testing |