ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.489C>T (p.Arg163=)

gnomAD frequency: 0.00006  dbSNP: rs782276356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502523 SCV000596572 uncertain significance not specified 2015-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341187 SCV002638885 likely benign Inborn genetic diseases 2019-10-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003718251 SCV004507287 benign not provided 2023-08-04 criteria provided, single submitter clinical testing

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