Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV001289557 | SCV001477511 | uncertain significance | Autosomal recessive osteopetrosis 1 | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001289557 | SCV004205811 | likely pathogenic | Autosomal recessive osteopetrosis 1 | 2022-10-22 | criteria provided, single submitter | clinical testing |