Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000967652 | SCV001115053 | likely benign | Aicardi-Goutieres syndrome 5 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003438636 | SCV004152692 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | SAMHD1: BP4, BP7 |
Prevention |
RCV003943161 | SCV004763760 | likely benign | SAMHD1-related condition | 2019-03-14 | 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). |
Natera, |
RCV001827053 | SCV002090983 | likely benign | Aicardi Goutieres syndrome | 2021-02-26 | no assertion criteria provided | clinical testing |