ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8115C>T (p.Cys2705=)

gnomAD frequency: 0.00007  dbSNP: rs756904669
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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 RCV000502077 SCV000596320 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060137 SCV002351624 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935303 SCV004753413 likely benign PCNT-related disorder 2023-05-23 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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