Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000022665 | SCV000891294 | likely pathogenic | Idiopathic basal ganglia calcification 1 | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000022665 | SCV002061506 | likely pathogenic | Idiopathic basal ganglia calcification 1 | 2021-07-13 | criteria provided, single submitter | clinical testing | PS3, PP2, PS4_Supporting, PM2 |
OMIM | RCV000022665 | SCV000043954 | pathogenic | Idiopathic basal ganglia calcification 1 | 2012-02-12 | no assertion criteria provided | literature only |