ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser)

dbSNP: rs770782578
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002256821 SCV002534763 likely benign Hereditary pancreatitis 2021-02-25 criteria provided, single submitter curation
Ambry Genetics RCV002256821 SCV002640480 benign Hereditary pancreatitis 2020-04-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573604 SCV001799741 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727891 SCV001969636 benign not specified no assertion criteria provided clinical testing

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