Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000869678 | SCV001011122 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507506 | SCV002800227 | likely benign | Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 | 2022-03-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271338 | SCV001452423 | uncertain significance | Familial aplasia of the vermis | 2020-02-13 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004538284 | SCV004727637 | likely benign | RPGRIP1L-related disorder | 2020-07-29 | no assertion criteria provided | 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). |