Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410780 | SCV000486520 | likely pathogenic | Cystic fibrosis | 2016-06-15 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000410780 | SCV003934577 | pathogenic | Cystic fibrosis | 2023-05-22 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.3495delG (p.Lys1165AsnfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250736 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3495delG in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003475960 | SCV004213494 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-06-03 | criteria provided, single submitter | clinical testing |