Variants studied for Nephronophthisis 14

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
1	2	399	384	40	819

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
ZNF423	1	2	397	384	40	817
ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423	0	0	2	0	0	2

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	0	0	394	380	40	814
Genome-Nilou Lab	0	0	0	0	25	25
Revvity Omics, Revvity	0	0	9	0	0	9
Fulgent Genetics, Fulgent Genetics	0	0	4	3	0	7
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	5	0	0	5
Baylor Genetics	0	1	2	0	0	3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	3	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
3billion	0	0	1	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	0	1	0	0	1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences	0	0	1	0	0	1

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