ClinVar Miner

Variants studied for cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
10 1 19 4 8 41

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NCAPH2, SCO2 9 1 15 3 0 27
NCAPH2, SCO2, TYMP 1 0 1 1 4 7
SCO2 0 0 3 0 1 4
SCO2, TYMP 0 0 0 0 3 3

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 16 4 8 28
OMIM 8 0 0 0 0 8
Baylor Genetics 2 0 2 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 1

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