ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) (rs189270875)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244167 SCV000309186 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000472464 SCV000562335 benign Hereditary pancreatitis 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000472464 SCV000966917 pathogenic Hereditary pancreatitis 2016-04-13 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV001025036 SCV001187149 likely pathogenic Inborn genetic diseases 2019-11-07 criteria provided, single submitter clinical testing Other strong data supporting pathogenic classification

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