ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3403C>A (p.Arg1135=)

gnomAD frequency: 0.00009  dbSNP: rs143490174
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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 RCV000194365 SCV000248465 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000959796 SCV001106723 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917764 SCV004731680 likely benign PCNT-related disorder 2021-05-19 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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