Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171178 | SCV000221375 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Baylor Genetics | RCV001332841 | SCV001525272 | uncertain significance | Adenosine kinase deficiency | 2019-12-24 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |