Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV002471700 | SCV002769169 | likely benign | Arthrogryposis, renal dysfunction, and cholestasis 2 | 2022-02-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.2, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of autosomal recessive Arthrogryposis, renal dysfunction, and cholestasis 2 (MIM#613404). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |