ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.1096G>A (p.Val366Met)

dbSNP: rs111541535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001810357 SCV002056072 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002482339 SCV002789592 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-05-30 criteria provided, single submitter clinical testing

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