ClinVar Miner

Variants studied for Arthrogryposis, renal dysfunction, and cholestasis 2

Coded as:
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
9 4 5 3 0 21

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 total
VIPAS39 9 4 5 3 21

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 7 0 0 0 7
Baylor Genetics 0 0 3 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 2
Revvity Omics, Revvity 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 1
3billion 0 0 0 1 1

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