ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu)

gnomAD frequency: 0.00193  dbSNP: rs566165293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000886522 SCV000251260 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886522 SCV001030032 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891770 SCV000312583 benign COQ2-related disorder 2021-10-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000199239 SCV001929901 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000886522 SCV001975377 likely benign not provided no assertion criteria provided clinical testing

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