ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.-78G>C

gnomAD frequency: 0.51847  dbSNP: rs131806
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309935 SCV000439288 benign Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364567 SCV000439289 benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376198 SCV000483998 benign Mitochondrial DNA depletion syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001149987 SCV001310989 benign Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV001149987 SCV001762665 benign Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543802 SCV001762666 benign Myopia 6 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713833 SCV005277350 benign not provided criteria provided, single submitter not provided

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