Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861913 | SCV001002330 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816936 | SCV002072181 | likely benign | not specified | 2020-07-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918331 | SCV004736541 | likely benign | MKS1-related condition | 2020-05-22 | 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, |
RCV001825711 | SCV002087624 | likely benign | Meckel syndrome, type 1 | 2020-03-12 | no assertion criteria provided | clinical testing |