ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1824C>T (p.Ser608=)

gnomAD frequency: 0.00152  dbSNP: rs141270350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000966782 SCV000511984 likely benign not provided 2020-10-17 criteria provided, single submitter clinical testing
Invitae RCV000966782 SCV001114135 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000420250 SCV001476097 benign not specified 2020-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488871 SCV002797376 likely benign Autosomal recessive ataxia due to ubiquinone deficiency 2021-07-26 criteria provided, single submitter clinical testing

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