Submissions for variant NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)

gnomAD frequency: 0.00389  dbSNP: rs111966833

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000030458	SCV000153933	benign	Hereditary pancreatitis	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723591	SCV000605245	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000030458	SCV000782315	likely benign	Hereditary pancreatitis	2016-11-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000030458	SCV001136990	likely benign	Hereditary pancreatitis	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000030458	SCV001172990	benign	Hereditary pancreatitis	2016-02-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000030458	SCV001316925	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262267	SCV001440072	likely benign	Tropical pancreatitis	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001723591	SCV002005559	likely benign	not provided	2020-10-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17568390, 22427236, 17525091, 27253233, 28994706, 15764155, 12360464, 10982753, 20977904, 26100556, 11265669, 12822871, 12634855, 23951356, 10835640, 10691414)
Sema4, Sema4	RCV000030458	SCV002535380	benign	Hereditary pancreatitis	2020-02-24	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000248152	SCV004025089	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723591	SCV004157286	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	SPINK1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001723591	SCV005228117	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030458	SCV000053128	benign	Hereditary pancreatitis	2011-08-11	no assertion criteria provided	clinical testing
GeneReviews	RCV000030458	SCV000153739	not provided	Hereditary pancreatitis		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003891447	SCV000309393	benign	SPINK1-related disorder	2020-11-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723591	SCV001958041	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723591	SCV001972550	likely benign	not provided		no assertion criteria provided	clinical testing