Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171151 | SCV000221347 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Blueprint Genetics | RCV000171151 | SCV000928175 | likely pathogenic | not provided | 2019-01-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001283780 | SCV001522360 | pathogenic | Reticular dysgenesis | 2019-11-27 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Biochemical Molecular Genetic Laboratory, |
RCV001283780 | SCV001469155 | pathogenic | Reticular dysgenesis | 2020-11-12 | no assertion criteria provided | clinical testing |