Submissions for variant NM_001379610.1(SPINK1):c.56-37T>C

gnomAD frequency: 0.00736  dbSNP: rs17107318

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232029	SCV000287885	risk factor	Hereditary pancreatitis	2016-03-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812643	SCV000605240	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000232029	SCV002535388	benign	Hereditary pancreatitis	2021-02-25	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001812643	SCV002821324	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SPINK1: BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000232029	SCV004015533	benign	Hereditary pancreatitis	2023-07-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000232029	SCV005020312	likely benign	Hereditary pancreatitis	2023-12-26	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.