Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000535774 | SCV000656943 | benign | Pancreatic adenocarcinoma | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613380 | SCV001836840 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001358463 | SCV001554204 | benign | not specified | no assertion criteria provided | clinical testing | The PALLD p.Pro115dup variant was not identified in the literature nor was it identified in COSMIC. The variant was identified in dbSNP (ID: rs201979617) and ClinVar (classified as benign by Invitae). The variant was identified in control databases in 597 of 142532 chromosomes (8 homozygous) at a frequency of 0.004189 (Genome Aggregation Database March 6, 2019, v2.1.1). This variant is an in-frame insertion resulting in the duplication of a proline (pro) residue at codon 115; the impact of this alteration on PALLD protein function is not known. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign. |