Variants studied for Infantile nephronophthisis

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
20	38	205	27	8	287

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
INVS	18	37	204	27	7	282
INVS, LOC130002251	0	0	1	0	1	2
TTC21B	2	0	0	0	0	2
ERP44, INVS	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 29

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	9	25	154	15	2	205
Illumina Laboratory Services, Illumina	2	0	46	11	5	64
Department of Pathology and Laboratory Medicine, Sinai Health System	1	2	7	0	0	10
Revvity Omics, Revvity	0	1	5	0	0	6
OMIM	5	0	0	0	0	5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	4	1	1	0	0	5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	2	2	4
Baylor Genetics	1	0	2	0	0	3
Mendelics	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	2	0	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	2	0	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	1	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Gharavi Laboratory, Columbia University	0	2	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Molecular Biology Laboratory, Fundació Puigvert	2	0	0	0	0	2
3billion	1	0	0	1	0	2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	2	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	1	0	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	1	0	0	0	1

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