ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5940C>T (p.Gly1980=)

gnomAD frequency: 0.00021  dbSNP: rs150436577
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193871 SCV000248479 uncertain significance not specified 2015-02-12 criteria provided, single submitter clinical testing
GeneDx RCV001697207 SCV000725604 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Invitae RCV001697207 SCV002387706 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937707 SCV004753207 likely benign PCNT-related condition 2023-05-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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