Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578888 | SCV000680502 | pathogenic | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16155193, 29300383, 33502061, 22462537, 21158681, 25525159, 16615981, 30498854, 23024289, 30049826, 34134972) |
Centre for Translational Omics - |
RCV000578162 | SCV000778569 | pathogenic | CHARGE association | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Sbielas Lab- |
RCV000578162 | SCV000680055 | pathogenic | CHARGE association | 2017-10-27 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000578162 | SCV001197961 | likely pathogenic | CHARGE association | no assertion criteria provided | research |