Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904753 | SCV001049292 | benign | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000904753 | SCV004140696 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | GFAP: BP4, BP7 |
Prevention |
RCV003910232 | SCV004718386 | benign | GFAP-related condition | 2019-11-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |