ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.545A>G (p.His182Arg)

gnomAD frequency: 0.00173  dbSNP: rs139931303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881404 SCV001024576 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000881404 SCV001887852 benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000881404 SCV004227537 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003920536 SCV004733680 likely benign COQ7-related disorder 2020-03-09 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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