Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442718 | SCV000514264 | benign | not specified | 2015-07-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000865603 | SCV001006596 | likely benign | Epilepsy, progressive myoclonic, 1B | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392236 | SCV004130623 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | PRICKLE1: BP4, BP7 |
Prevention |
RCV003972578 | SCV004792492 | likely benign | PRICKLE1-related condition | 2022-12-14 | 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). |