ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.279C>T (p.Ile93=)

gnomAD frequency: 0.00489  dbSNP: rs139664510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756566 SCV000562334 benign Hereditary pancreatitis 2023-12-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756566 SCV000884411 benign Hereditary pancreatitis 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000756566 SCV001177318 benign Hereditary pancreatitis 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000756566 SCV004017122 benign Hereditary pancreatitis 2023-07-07 criteria provided, single submitter clinical testing

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