Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000855700 | SCV000998856 | likely pathogenic | Arthrogryposis, distal, type 2B3 | 2019-08-21 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Arthrogryposis, distal, 2B3, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM1, PM6. |