ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.522-9C>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002599275 SCV003496651 likely benign not provided 2021-12-23 criteria provided, single submitter clinical testing
GeneDx RCV002599275 SCV005326858 uncertain significance not provided 2024-01-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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