Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000853514 | SCV000996469 | 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, PVS1-Strong, PP1. |