Variants studied for Achondrogenesis, type IA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
50	14	317	237	75	655

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
TRIP11	50	14	316	237	75	654
ASB2, ATXN3, BTBD7, CALM1, CATSPERB, CCDC88C, CHGA, COX8C, CPSF2, DDX24, DGLUCY, FAM181A, FBLN5, GOLGA5, GON7, GPR68, IFI27, IFI27L1, IFI27L2, ITPK1, KCNK13, LGMN, LYSET, MOAP1, NDUFB1, NRDE2, OTUB2, PPP4R3A, PPP4R4, PRIMA1, PSMC1, RIN3, RPS6KA5, SERPINA1, SERPINA10, SERPINA2, SERPINA6, SLC24A4, TC2N, TDP1, TRIP11, TTC7B, UBR7, UNC79	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	37	7	230	228	56	558
Illumina Laboratory Services, Illumina	0	0	108	16	44	168
OMIM	6	0	0	0	0	6
SIB Swiss Institute of Bioinformatics	3	1	0	0	0	4
Baylor Genetics	1	0	2	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	3	0	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	1	1	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
3billion	0	1	0	0	0	1
Suma Genomics	1	0	0	0	0	1
Dr.Nikuei Genetic Center	0	1	0	0	0	1

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