Submissions for variant NM_002769.5(PRSS1):c.738T>C (p.Asn246=)

gnomAD frequency: 0.53816  dbSNP: rs6667

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248971	SCV000309187	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000248971	SCV000729773	likely benign	not specified	2017-12-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV001285483	SCV001188728	benign	Hereditary pancreatitis	2014-11-26	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001285483	SCV001471917	benign	Hereditary pancreatitis	2021-01-14	criteria provided, single submitter	clinical testing
Invitae	RCV001285483	SCV001717239	benign	Hereditary pancreatitis	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000248971	SCV002015202	benign	not specified	2021-10-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001285483	SCV002031958	benign	Hereditary pancreatitis	2021-10-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001285483	SCV004017119	benign	Hereditary pancreatitis	2023-07-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248971	SCV001743302	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248971	SCV001953856	benign	not specified		no assertion criteria provided	clinical testing