ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.533-17A>C

gnomAD frequency: 0.34637  dbSNP: rs7850697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443871 SCV000517662 benign not specified 2015-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518168 SCV001726817 benign Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718632 SCV005318382 benign not provided criteria provided, single submitter not provided

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