ClinVar Miner

Submissions for variant NM_032901.4(COX14):c.-8-14A>G

gnomAD frequency: 0.00037  dbSNP: rs200753288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606407 SCV000714928 likely benign not specified 2018-02-07 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 RCV002498900 SCV002805202 likely benign Mitochondrial complex 4 deficiency, nuclear type 10 2021-08-20 criteria provided, single submitter clinical testing

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