Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002135195 | SCV002450678 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003408145 | SCV004141171 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | ERCC4: BP4, BP7 |
Prevention |
RCV003971066 | SCV004778437 | likely benign | ERCC4-related disorder | 2023-10-12 | 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). |