Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457046 | SCV000561163 | benign | Creatine transporter deficiency | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584189 | SCV001811267 | likely benign | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942560 | SCV004766184 | likely benign | SLC6A8-related condition | 2019-12-04 | 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). |