Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001420938 | SCV001623399 | likely benign | not specified | 2021-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001440296 | SCV001643202 | likely benign | Cystic fibrosis | 2022-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001440296 | SCV002637127 | likely benign | Cystic fibrosis | 2022-05-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001835994 | SCV002080548 | likely benign | CFTR-related disorders | 2020-10-22 | no assertion criteria provided | clinical testing |