Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514012 | SCV000610409 | likely benign | not provided | 2017-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000514012 | SCV001055913 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935350 | SCV004748843 | benign | CHAMP1-related condition | 2019-04-11 | 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). |