ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.149= (p.Gly50=)

dbSNP: rs3003601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436359 SCV000522350 likely benign not specified 2017-07-31 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 RCV000543009 SCV000656640 benign Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2024-01-19 criteria provided, single submitter clinical testing

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