Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513264 | SCV000608865 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | RTTN: BP4, BP7 |
Gene |
RCV000513264 | SCV000719801 | likely benign | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000513264 | SCV001043861 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942667 | SCV004764765 | likely benign | RTTN-related condition | 2020-02-24 | 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). |