ClinVar Miner

Submissions for variant NM_001863.5(COX6B1):c.-11-8G>A

gnomAD frequency: 0.00005  dbSNP: rs200312775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602542 SCV000716813 likely benign not specified 2017-04-14 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.
Fulgent Genetics, Fulgent Genetics RCV002506458 SCV002808994 likely benign Mitochondrial complex 4 deficiency, nuclear type 7 2022-05-11 criteria provided, single submitter clinical testing

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