ClinVar Miner

Submissions for variant NM_005205.4(COX6A2):c.34T>G (p.Leu12Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003411340 SCV004139243 benign not provided 2023-10-01 criteria provided, single submitter clinical testing COX6A2: BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV003411340 SCV005411301 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV003929070 SCV004739712 likely benign COX6A2-related disorder 2022-05-18 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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