Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731111 | SCV000858888 | uncertain significance | not provided | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001473193 | SCV001677338 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892632 | SCV004715624 | likely benign | CEP290-related condition | 2021-03-04 | 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). |