Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416020 | SCV000493471 | uncertain significance | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Dan Cohn Lab, |
RCV000515998 | SCV000612038 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515998 | SCV001479391 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |