Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000285600 | SCV000366689 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000317227 | SCV000366690 | uncertain significance | Short rib-polydactyly syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000285600 | SCV001001654 | likely benign | Jeune thoracic dystrophy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977869 | SCV004795101 | likely benign | DYNC2H1-related condition | 2020-09-09 | 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). |