ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.604C>A (p.Gln202Lys)

gnomAD frequency: 0.00405  dbSNP: rs61735962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965760 SCV001113037 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346171 SCV001186926 likely benign Hereditary pancreatitis 2018-09-25 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.
Breakthrough Genomics, Breakthrough Genomics RCV000965760 SCV005226746 likely benign not provided criteria provided, single submitter not provided

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