Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000945847 | SCV001091909 | benign | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488024 | SCV002794582 | likely benign | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004738097 | SCV005354815 | likely benign | IFT172-related disorder | 2024-09-02 | 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). |