Variants studied for Leber congenital amaurosis 9

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)

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
51	33	71	59	6	1	202

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	not provided	total
NMNAT1	50	29	71	59	6	1	197
LOC126805613, NMNAT1	1	4	0	0	0	0	5

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	33	6	67	57	5	0	168
Laboratory of Genetics in Ophthalmology, Institut Imagine	14	20	1	0	0	0	35
OMIM	14	0	0	0	0	0	14
3billion	2	6	0	0	0	0	8
Department of Pathology and Laboratory Medicine, Sinai Health System	1	1	2	0	0	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	1	1	0	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	1	0	2
Genomics England Pilot Project, Genomics England	2	0	0	0	0	0	2
Variantyx, Inc.	2	0	0	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	0	0	1
First Genomix Gene Laboratory, Genetic Diagnostics Department	1	0	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	1	0	0	0	0	0	1
GeneReviews	0	0	0	0	0	1	1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP	1	0	0	0	0	0	1
Mendelics	0	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	0	1	0	0	0	1

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