ClinVar Miner

Submissions for variant NM_001863.5(COX6B1):c.107-16A>G

gnomAD frequency: 0.00049  dbSNP: rs187740487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425026 SCV000512755 likely benign not specified 2017-08-22 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 RCV002061370 SCV002402331 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502469 SCV002811338 likely benign Mitochondrial complex 4 deficiency, nuclear type 7 2021-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002061370 SCV005206986 likely benign not provided criteria provided, single submitter not provided

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