Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sema4, |
RCV002256821 | SCV002534763 | likely benign | Hereditary pancreatitis | 2021-02-25 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256821 | SCV002640480 | benign | Hereditary pancreatitis | 2020-04-21 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV001573604 | SCV001799741 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727891 | SCV001969636 | benign | not specified | no assertion criteria provided | clinical testing |