ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)

dbSNP: rs775741794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311874 SCV001502223 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145548 SCV003829917 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2021-01-20 criteria provided, single submitter clinical testing

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