ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8569C>T (p.Leu2857=)

gnomAD frequency: 0.00006  dbSNP: rs375869631
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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 RCV000504440 SCV000596324 likely benign not specified 2016-01-15 criteria provided, single submitter clinical testing
Invitae RCV002524259 SCV003452145 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942644 SCV004763898 likely benign PCNT-related condition 2021-07-21 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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