Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548469 | SCV000654780 | likely benign | Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925696 | SCV004738337 | likely benign | SLC35A3-related disorder | 2019-11-12 | 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, |
RCV001275499 | SCV001460672 | likely benign | Arthrogryposis multiplex congenita | 2020-09-16 | no assertion criteria provided | clinical testing |