Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865623 | SCV001006617 | benign | Creatine transporter deficiency | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975406 | SCV004792679 | likely benign | SLC6A8-related condition | 2019-04-29 | 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, |
RCV001825727 | SCV002084562 | likely benign | Creatine deficiency syndrome 1 | 2020-03-27 | no assertion criteria provided | clinical testing |