Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000406622 | SCV000340888 | uncertain significance | not provided | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079200 | SCV001004187 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000406622 | SCV001150925 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000406622 | SCV001771919 | likely benign | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26862157) |
Prevention |
RCV003940030 | SCV004752751 | likely benign | RPGRIP1L-related condition | 2021-06-29 | 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, |
RCV001835759 | SCV002085760 | benign | Familial aplasia of the vermis | 2020-01-17 | no assertion criteria provided | clinical testing |