ClinVar Miner

Variants studied for asphyxiating thoracic dystrophy 3

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
35 96 211 19 55 402

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 31 88 211 19 55 390
DYNC2I1 0 4 0 0 0 4
DYNC2I2 0 2 0 0 0 2
NEK1 2 0 0 0 0 2
BBS10 1 0 0 0 0 1
DYNLT2B 1 0 0 0 0 1
FAM98C 0 1 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 183 8 48 239
University of Washington Center for Mendelian Genomics, University of Washington 0 82 0 0 0 82
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 15 11 30 57
OMIM 21 0 0 0 0 21
Baylor Genetics 3 0 9 0 0 12
Human Genetics - Radboudumc,Radboudumc 5 1 3 0 0 9
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 3 0 0 0 6
Mendelics 1 0 1 0 3 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1

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