Variants studied for Nephronophthisis-like nephropathy 1

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
9	13	186	66	33	290

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
XPNPEP3	8	13	185	66	33	288
CHADL, EP300, L3MBTL2, LOC112695097, LOC125446243, LOC126863158, LOC130067524, LOC130067525, LOC130067526, LOC130067527, LOC130067528, LOC130067529, LOC130067530, LOC130067531, LOC130067532, LOC130067533, LOC130067534, LOC130067535, LOC130067536, LOC130067537, MIR1281, MIR6889, RANGAP1, RBX1, SNORD140, XPNPEP3, ZC3H7B	0	0	1	0	0	1
LOC130067533, LOC130067534, LOC130067535, LOC130067536, RANGAP1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	104	12	28	144
Labcorp Genetics (formerly Invitae), Labcorp	3	2	40	51	9	105
Fulgent Genetics, Fulgent Genetics	0	7	59	7	0	73
OMIM	3	0	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	2	0	0	0	2
Undiagnosed Diseases Network, NIH	1	0	1	0	0	2
Molecular Biology Laboratory, Fundació Puigvert	2	0	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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