Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001455477 | SCV001659237 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2022-10-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952851 | SCV004774496 | likely benign | ERCC4-related disorder | 2019-07-15 | 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). |