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

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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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	18	5	0	3	54

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
DYNC2H1	24	16	5	3	48
NEK1	2	0	0	0	2
BBS10	1	0	0	0	1
FAM98C	0	1	0	0	1
TCTEX1D2	1	0	0	0	1
TMEM256, TMEM256-PLSCR3	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	21	0	0	0	21
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre	3	3	0	0	6
Mendelics	1	0	1	3	5
University of Washington Center for Mendelian Genomics,University of Washington	0	5	0	0	5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	2	0	0	3
Baylor Genetics	1	0	1	0	2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute	0	2	0	0	2
Fulgent Genetics,Fulgent Genetics	0	0	2	0	2
Institute of Human Genetics,Klinikum rechts der Isar	0	2	0	0	2
Center of Genomic medicine, Geneva,University Hospital of Geneva	1	1	0	0	2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	0	2	0	0	2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	1	0	0	1
Reproductive Health Research and Development,BGI Genomics	0	0	1	0	1

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