ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys)

gnomAD frequency: 0.00182  dbSNP: rs112853262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596562 SCV000709239 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285409 SCV001471828 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2020-01-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000596562 SCV002067905 likely benign not specified 2019-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065181 SCV002385040 benign not provided 2025-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980117 SCV004798942 likely benign PCNT-related disorder 2020-01-02 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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