ClinVar Miner

Submissions for variant NM_003122.4(SPINK1):c.174C>T (p.Cys58=) (rs35737774)

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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 RCV000251281 SCV000309394 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408227 SCV000453728 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000408227 SCV000561785 benign Hereditary pancreatitis 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000251281 SCV000605243 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012974 SCV001173504 benign Inborn genetic diseases 2016-01-27 criteria provided, single submitter clinical testing

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