Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334139 | SCV001526890 | uncertain significance | Autosomal dominant Robinow syndrome 1 | 2018-01-24 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Lupski Lab, |
RCV001334139 | SCV001438011 | likely pathogenic | Autosomal dominant Robinow syndrome 1 | 2018-08-24 | no assertion criteria provided | research |