Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514280 | SCV000609615 | likely benign | not provided | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000514280 | SCV001034541 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514280 | SCV001841838 | benign | not provided | 2020-03-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496978 | SCV002809393 | likely benign | Cole-Carpenter syndrome 2 | 2021-09-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902820 | SCV004721280 | benign | SEC24D-related condition | 2019-03-21 | 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). |