ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.307T>G (p.Ser103Ala)

gnomAD frequency: 0.00008  dbSNP: rs200480915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594379 SCV000702934 uncertain significance not provided 2016-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483588 SCV002785760 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-01-21 criteria provided, single submitter clinical testing
Johnston Lab, North Central College RCV000594379 SCV005200381 not provided not provided no assertion provided in vitro

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