Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226103 | SCV000288845 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001294109 | SCV001482922 | uncertain significance | Fanconi anemia complementation group Q | 2020-07-28 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003929973 | SCV004746501 | likely benign | ERCC4-related disorder | 2024-01-08 | 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). |