Variants studied for Distal arthrogryposis type 2B1

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
6	8	113	36	44	205

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MYH3	0	0	91	36	31	158
TNNI2	6	7	9	0	7	27
TNNT3	0	0	12	0	6	18
TPM2	0	1	1	0	0	2

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	103	36	42	181
OMIM	5	0	0	0	0	5
Baylor Genetics	2	0	2	0	0	4
Genetic Services Laboratory, University of Chicago	2	1	0	0	0	3
Centogene AG - the Rare Disease Company	1	1	1	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	0	3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	2	2
Revvity Omics, Revvity	0	1	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Genome-Nilou Lab	0	0	0	0	2	2
MGZ Medical Genetics Center	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	1	0	0	0	0	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	1	0	0	0	1
Pars Genome Lab	1	0	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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