Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001250570 | SCV001425427 | pathogenic | Cystic fibrosis | 2020-04-27 | criteria provided, single submitter | clinical testing | This CFTR variant has been previously reported in a patient with cystic fibrosis. It is absent from ClinVar and a large population dataset. c.2988+2T>C alters a canonical splice donor site and is predicted to cause abnormal gene splicing. We consider this variant to be pathogenic. |