Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334725 | SCV001527651 | uncertain significance | Ritscher-Schinzel syndrome 2 | 2018-01-25 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001334725 | SCV002790857 | uncertain significance | Ritscher-Schinzel syndrome 2 | 2022-03-07 | criteria provided, single submitter | clinical testing |