Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000754856 | SCV000996489 | likely pathogenic | Basal ganglia calcification, idiopathic, 7, autosomal recessive | 2019-06-13 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3-Supporting, PVS1-Strong. |
OMIM | RCV000754856 | SCV000882736 | pathogenic | Basal ganglia calcification, idiopathic, 7, autosomal recessive | 2019-06-24 | no assertion criteria provided | literature only |