ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.*10_*38del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331601 SCV004037984 uncertain significance not specified 2023-08-18 criteria provided, single submitter clinical testing Variant summary: SPINK1 c.*10_*38del29 is located in the untranslated mRNA region downstream of the termination codon. The variant was absent in 250562 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*10_*38del29 in individuals affected with Chronic Pancreatitis Risk and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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