Submissions for variant NM_007272.3(CTRC):c.110G>A (p.Arg37Gln)

gnomAD frequency: 0.00032  dbSNP: rs145868278

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233315	SCV000289729	likely benign	Hereditary pancreatitis	2023-12-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000233315	SCV000349078	likely benign	Hereditary pancreatitis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000233315	SCV000885267	likely benign	Hereditary pancreatitis	2022-12-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000233315	SCV001178397	benign	Hereditary pancreatitis	2016-02-29	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.