ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro)

dbSNP: rs752708321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193370 SCV000248504 uncertain significance not specified 2014-09-11 criteria provided, single submitter clinical testing
GeneDx RCV002472966 SCV002770206 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function

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