ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)

gnomAD frequency: 0.00070  dbSNP: rs139551241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001283506 SCV000612249 benign not specified 2024-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000517820 SCV001052244 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490877 SCV002802793 likely benign Autosomal recessive ataxia due to ubiquinone deficiency 2021-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962426 SCV004780731 likely benign COQ8A-related disorder 2019-08-23 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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