Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503789 | SCV000595326 | benign | not specified | 2017-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000878104 | SCV001020954 | benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311013 | SCV001501029 | likely benign | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001311013 | SCV001844275 | likely benign | not provided | 2020-07-05 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV001731726 | SCV001984147 | benign | Joubert syndrome 23 | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925468 | SCV004742199 | benign | KIAA0586-related condition | 2019-08-28 | 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). |