ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1281C>T (p.His427=)

gnomAD frequency: 0.00004  dbSNP: rs142413458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000366032 SCV000332403 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820807 SCV002068740 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000366032 SCV003451872 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947833 SCV004759790 likely benign PCNT-related disorder 2023-06-16 no assertion criteria provided 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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