Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001521462 | SCV001730811 | benign | Frontotemporal dementia | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001685408 | SCV001896009 | benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003956205 | SCV004770103 | likely benign | MAPT-related condition | 2023-02-23 | 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). |