Submissions for variant NM_002769.5(PRSS1):c.592-11C>T

gnomAD frequency: 0.00131  dbSNP: rs183791770

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249657	SCV000309184	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001283213	SCV000604927	benign	Hereditary pancreatitis	2023-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001548159	SCV001768020	likely benign	not provided	2020-08-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27264265, 24458023, 30134826, 28502372)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001283213	SCV002383952	benign	Hereditary pancreatitis	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001283213	SCV002650390	likely benign	Hereditary pancreatitis	2015-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001283213	SCV004017120	benign	Hereditary pancreatitis	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001548159	SCV005226850	likely benign	not provided		criteria provided, single submitter	not provided