ClinVar Miner

Submissions for variant NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)

dbSNP: rs778740017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000201789 SCV001522407 likely pathogenic Cytochrome-c oxidase deficiency disease 2019-11-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000201789 SCV000256532 pathogenic Cytochrome-c oxidase deficiency disease 2015-02-01 no assertion criteria provided literature only

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