Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887731 | SCV001031310 | likely benign | RFT1-congenital disorder of glycosylation | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000887731 | SCV001527285 | uncertain significance | RFT1-congenital disorder of glycosylation | 2018-02-06 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003975595 | SCV004795476 | likely benign | RFT1-related disorder | 2022-03-28 | 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). |