Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000912287 | SCV001057383 | likely benign | Aicardi-Goutieres syndrome 4 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003311913 | SCV004011024 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | RNASEH2A: BP4, BP7 |
Prevention |
RCV003950762 | SCV004757305 | likely benign | RNASEH2A-related condition | 2024-01-02 | 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). |