ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.532+16C>T

gnomAD frequency: 0.00002  dbSNP: rs1473752267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616916 SCV000721057 likely benign not specified 2017-07-27 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 RCV002529615 SCV003272621 likely benign Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2023-05-20 criteria provided, single submitter clinical testing

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