Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862005 | SCV001002432 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501207 | SCV002813762 | likely benign | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2022-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908169 | SCV004725036 | likely benign | CEP290-related condition | 2020-10-14 | criteria provided, single submitter | 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). |
Natera, |
RCV001273063 | SCV001455650 | uncertain significance | Leber congenital amaurosis | 2020-04-17 | no assertion criteria provided | clinical testing |