Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000756566 | SCV000562334 | benign | Hereditary pancreatitis | 2023-12-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756566 | SCV000884411 | benign | Hereditary pancreatitis | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000756566 | SCV001177318 | benign | Hereditary pancreatitis | 2016-11-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
KCCC/NGS Laboratory, |
RCV000756566 | SCV004017122 | benign | Hereditary pancreatitis | 2023-07-07 | criteria provided, single submitter | clinical testing |