ClinVar Miner

Submissions for variant NM_001169109.2(SCO2):c.-14+522A>G

gnomAD frequency: 0.82861  dbSNP: rs131805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543803 SCV001762667 benign Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543804 SCV001762668 benign Myopia 6 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001638142 SCV001849861 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638142 SCV005277351 benign not provided criteria provided, single submitter not provided

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