ClinVar Miner

Submissions for variant NM_003122.4(SPINK1):c.231G>A (p.Gly77=) (rs34809998)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243917 SCV000309395 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278874 SCV000453726 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000278874 SCV000561783 benign Hereditary pancreatitis 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000243917 SCV000605242 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015175 SCV001175984 benign Inborn genetic diseases 2016-03-08 criteria provided, single submitter clinical testing

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