ClinVar Miner

Variants studied for Short-rib thoracic dysplasia 3 with or without polydactyly

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
28 20 187 8 48 290

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 24 18 187 8 48 284
NEK1 2 0 0 0 0 2
BBS10 1 0 0 0 0 1
FAM98C 0 1 0 0 0 1
TCTEX1D2 1 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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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
OMIM 21 0 0 0 0 21
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 3 0 0 0 6
Mendelics 1 0 1 0 3 5
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
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
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
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 1 0 0 1

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