Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501488 | SCV000593081 | benign | not specified | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988323 | SCV001137992 | benign | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613317 | SCV001836450 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983098 | SCV004797040 | benign | AKR1C2-related condition | 2019-11-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |