Variants studied for Larsen syndrome

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	not provided	total
10	7	121	40	21	12	206

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	not provided	total
CHST3	1	0	92	31	20	0	144
FLNB	8	7	29	9	0	12	60
FGFR3	1	0	0	0	0	0	1
FLNB, LOC129936935	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	92	31	20	0	143
Fulgent Genetics, Fulgent Genetics	0	0	10	7	1	0	18
GeneReviews	0	0	0	0	0	12	12
OMIM	4	0	0	0	0	0	4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	3	1	0	0	0	4
New York Genome Center	0	0	4	0	0	0	4
Mendelics	0	1	0	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	0	0	0	0	0	2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	2	0	0	0	0	0	2
3billion	0	1	1	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	1	0	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	0	1
Breda Genetics srl	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	1	0	0	0	0	0	1

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