Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456643 | SCV000563180 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000456643 | SCV001813564 | likely benign | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003457705 | SCV004178398 | likely benign | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970364 | SCV004786844 | likely benign | SZT2-related condition | 2019-02-24 | 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). |