ClinVar Miner

Variants studied for Acroosteolysis dominant type

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
37 13 578 425 83 1108

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NOTCH2 37 13 577 425 83 1107
ADAM30, HAO2, HMGCS2, HSD3B1, HSD3B2, NOTCH2, PHGDH, REG4, TBX15, WARS2, ZNF697 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 3 550 408 77 1061
Fulgent Genetics, Fulgent Genetics 0 0 78 31 2 111
OMIM 7 0 0 0 0 7
Mendelics 1 0 1 2 2 6
Baylor Genetics 2 0 3 0 0 5
3billion 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Metabolic Disease laboratory, Sheba Medical Center 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1

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