Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000896097 | SCV001040172 | likely benign | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000896097 | SCV002522051 | uncertain significance | not provided | 2021-11-29 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV005029526 | SCV005662410 | uncertain significance | Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 | 2024-04-05 | criteria provided, single submitter | clinical testing |