ClinVar Miner

Variants studied for Combined oxidative phosphorylation defect type 24; Hearing loss, autosomal recessive 94

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
0 2 2 1 0 1 6

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic uncertain significance likely benign not provided total
NARS2 2 2 1 1 6

Submitter and significance breakdown #

Total submitters: 5
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Submitter likely pathogenic uncertain significance likely benign not provided total
Fulgent Genetics, Fulgent Genetics 0 2 0 0 2
3billion 0 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1

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