Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001436681 | SCV001639525 | likely benign | Bardet-Biedl syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501541 | SCV002798070 | likely benign | Bardet-Biedl syndrome 1 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946143 | SCV004760089 | likely benign | BBS1-related disorder | 2024-01-04 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |