ClinVar Miner

Submissions for variant NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) (rs111966833)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000030458 SCV000153933 benign Hereditary pancreatitis 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248152 SCV000309393 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248152 SCV000605245 benign not specified 2018-08-21 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 RCV001012526 SCV001172990 benign Inborn genetic diseases 2016-02-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Integrated Genetics/Laboratory Corporation of America RCV000030458 SCV000053128 benign Hereditary pancreatitis 2011-08-11 no assertion criteria provided clinical testing
GeneReviews RCV000030458 SCV000153739 pathogenic Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only

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