Variants studied for Nephronophthisis 12

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
7	6	103	14	22	149

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
TTC21B	7	6	103	14	21	148
LOC129935046, TTC21B	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	86	13	21	120
Precision Medicine Center, Zhengzhou University	3	2	5	0	0	10
Baylor Genetics	0	1	7	0	0	8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	3	1	1	6
OMIM	3	0	0	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	1	0	0	2
Genomics And Bioinformatics Analysis Resource, Columbia University	1	1	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	1	0	0	0	1
Eurofins-Biomnis	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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