Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887078 | SCV001030617 | likely benign | Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955924 | SCV004784182 | likely benign | SLC35A3-related disorder | 2019-08-14 | 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). |
Natera, |
RCV000887078 | SCV002094602 | likely benign | Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 2020-09-11 | no assertion criteria provided | clinical testing |