ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.204C>T (p.Pro68=)

gnomAD frequency: 0.00002  dbSNP: rs781840776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002138746 SCV002455037 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416493 SCV002726205 likely benign Hereditary pancreatitis 2021-04-22 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.

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