Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411629 | SCV000486698 | likely pathogenic | Cystic fibrosis | 2016-07-20 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000411629 | SCV000696906 | pathogenic | Cystic fibrosis | 2016-08-04 | criteria provided, single submitter | clinical testing | Variant summary: The CFTR c.2554dupT (p.Tyr852Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 121240 control chromosomes, but has been reported in numerous affected individuals in the literature. Taken together, this variant is classified as pathogenic. |
Mendelics | RCV000411629 | SCV000886275 | pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing |