Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652586 | SCV000774456 | benign | Joubert syndrome 25 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692250 | SCV001909296 | benign | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001692250 | SCV004128031 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CEP104: BP4, BP7, BS2 |
Prevention |
RCV003928132 | SCV004746300 | likely benign | CEP104-related condition | 2019-07-15 | 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). |
Genome Diagnostics Laboratory, |
RCV001796173 | SCV002033973 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001692250 | SCV002038408 | likely benign | not provided | no assertion criteria provided | clinical testing |