Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178300 | SCV000230356 | uncertain significance | not provided | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080714 | SCV000758425 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178300 | SCV001780931 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907614 | SCV004720333 | likely benign | RPGRIP1L-related condition | 2021-12-01 | 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, |
RCV001271342 | SCV001452427 | uncertain significance | Familial aplasia of the vermis | 2019-11-11 | no assertion criteria provided | clinical testing |