Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003324758 | SCV004030587 | likely pathogenic | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | Reported heterozygous with another variant in the DYNC2H1 gene, phase unknown, in an individual with a skeletal ciliopathy (Zhang et al., 2018) Zhang W et al. (2018) Hum Mutat 39 (1):152-166 (PMID: 29068549); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29068549) |
Dan Cohn Lab, |
RCV001291157 | SCV000612001 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2017-06-01 | no assertion criteria provided | research | |
Dan Cohn Lab, |
RCV001291157 | SCV000612108 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001291157 | SCV001479538 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | no assertion criteria provided | research |