Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539073 | SCV000655675 | benign | Joubert syndrome 25 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001558971 | SCV001781019 | likely benign | not provided | 2021-08-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905461 | SCV004726633 | benign | CEP104-related condition | 2019-09-05 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |