ClinVar Miner

Submissions for variant NM_001370595.2(COA8):c.314T>C (p.Phe105Ser)

gnomAD frequency: 0.00001  dbSNP: rs587777786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001261875 SCV000189806 pathogenic Mitochondrial complex 4 deficiency, nuclear type 17 2014-09-04 no assertion criteria provided literature only
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV001261875 SCV000891476 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 17 2017-12-30 no assertion criteria provided curation

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