ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.339T>A (p.Pro113=)

gnomAD frequency: 0.00003  dbSNP: rs59662841
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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 RCV000147112 SCV000194472 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV003764891 SCV004618456 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927438 SCV004746718 likely benign PCNT-related condition 2023-08-10 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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