Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000954008 | SCV001100610 | likely benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001559430 | SCV001781653 | likely benign | not provided | 2021-07-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001559430 | SCV003812108 | uncertain significance | not provided | 2019-12-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925991 | SCV004740077 | likely benign | KIAA0586-related condition | 2022-03-06 | 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). |