Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330966 | SCV001522843 | pathogenic | Joubert syndrome 3 | 2019-09-20 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Center for Genomic Medicine, |
RCV001330966 | SCV001746606 | pathogenic | Joubert syndrome 3 | 2021-01-06 | criteria provided, single submitter | clinical testing |