ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)

dbSNP: rs144422014
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000012656 SCV001137528 benign Hereditary pancreatitis 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000012656 SCV001717238 benign Hereditary pancreatitis 2020-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000012656 SCV002707353 likely benign Hereditary pancreatitis 2015-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
OMIM RCV000012656 SCV000032891 pathogenic Hereditary pancreatitis 2005-04-01 no assertion criteria provided literature only

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