ClinVar Miner

Variants studied for Navajo neurohepatopathy

Included ClinVar conditions (1):
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
29 16 31 1 2 72

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MPV17 29 16 31 1 2 72

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 23 1 2 26
GeneReviews 20 0 0 0 0 20
SIB Swiss Institute of Bioinformatics 1 12 6 0 0 19
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 5 3 1 0 0 9
OMIM 7 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 2
Mendelics 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Inherited Metabolic Diseases Molecular Laboratory,University of Cape Town / National Health Laboratory Services 1 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 1

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