Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529924 | SCV000634664 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765112 | SCV000896334 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002469187 | SCV002765810 | uncertain significance | not provided | 2022-06-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001272013 | SCV001453641 | uncertain significance | Leber congenital amaurosis | 2020-06-14 | no assertion criteria provided | clinical testing |