ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.156C>T (p.Asn52=)

gnomAD frequency: 0.00830  dbSNP: rs77373944
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265702 SCV000349079 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.
Invitae RCV000265702 SCV000562019 benign Hereditary pancreatitis 2024-01-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000265702 SCV000603254 benign Hereditary pancreatitis 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000265702 SCV001172652 benign Hereditary pancreatitis 2014-09-11 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.
GeneDx RCV001706437 SCV001866784 benign not provided 2020-11-10 criteria provided, single submitter clinical testing

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