ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5253C>G (p.His1751Gln)

dbSNP: rs114799541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000966679 SCV000514063 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Invitae RCV000966679 SCV001114024 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821160 SCV002067904 benign not specified 2019-03-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966679 SCV004152024 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PCNT: BP4, BS1

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