Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001098099 | SCV001254442 | benign | Hereditary pancreatitis | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Labcorp Genetics |
RCV001098099 | SCV001654198 | likely benign | Hereditary pancreatitis | 2024-01-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001098099 | SCV002621288 | uncertain significance | Hereditary pancreatitis | 2023-03-08 | criteria provided, single submitter | clinical testing | The c.369C>T variant (also known as p.A123A) is located in coding exon 5 of the CTRC gene. This variant results from a C to T substitution at nucleotide position 369. This nucleotide substitution does not change the alanine at codon 123. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |