Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333060 | SCV001525545 | uncertain significance | Microcephalic primordial dwarfism due to RTTN deficiency | 2019-05-04 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV001333060 | SCV003814331 | uncertain significance | Microcephalic primordial dwarfism due to RTTN deficiency | 2020-03-17 | criteria provided, single submitter | clinical testing |