ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.136C>T (p.Arg46Trp)

gnomAD frequency: 0.00043  dbSNP: rs77337400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514121 SCV000609623 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514121 SCV001055480 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000514121 SCV002008640 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing

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