Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV001787339 | SCV000790791 | likely benign | Joubert syndrome 2; Meckel syndrome, type 2 | 2017-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001475886 | SCV001680084 | likely benign | Familial aplasia of the vermis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003318623 | SCV004023052 | uncertain significance | not provided | 2023-01-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |