Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253498 | SCV000314412 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001589274 | SCV001824593 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | Identified in individual with asphyxiating thoracic dystrophy; however, additional variants in other genes were also identified (Zhang et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29068549) |
Invitae | RCV001854967 | SCV002187230 | likely benign | Jeune thoracic dystrophy; Nephronophthisis | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Dan Cohn Lab, |
RCV000516123 | SCV000612125 | uncertain significance | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000516123 | SCV001479704 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |