Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540520 | SCV000654054 | likely benign | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001292941 | SCV001481648 | uncertain significance | Fanconi anemia complementation group Q | 2020-01-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |