ClinVar Miner

Submissions for variant NM_078470.6(COX15):c.532C>T (p.Arg178Cys)

gnomAD frequency: 0.00008  dbSNP: rs192078749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625907 SCV000746488 uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 2019-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060702 SCV002349752 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing

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