Submissions for variant NM_007272.3(CTRC):c.180C>A (p.Gly60=)

dbSNP: rs497078

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227160	SCV000289730	benign	Hereditary pancreatitis	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000242318	SCV000311779	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000227160	SCV000349080	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000227160	SCV000603249	benign	Hereditary pancreatitis	2023-11-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000227160	SCV001173750	likely benign	Hereditary pancreatitis	2014-10-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001706265	SCV001830130	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
GeneReviews	RCV000227160	SCV000153754	association	Hereditary pancreatitis	2014-03-13	no assertion criteria provided	literature only