Variants studied for Hyperammonemia, type III

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	not provided	total
57	60	114	377	20	1	589

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
NAGS	56	58	113	377	20	1	586
NAGS, PYY	1	2	1	0	0	0	3

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	44	11	86	371	16	0	528
Baylor Genetics	6	38	1	0	0	0	45
Natera, Inc.	1	2	18	9	8	0	38
Illumina Laboratory Services, Illumina	0	0	24	5	6	0	35
Fulgent Genetics, Fulgent Genetics	0	14	0	1	0	0	15
OMIM	8	0	0	0	0	0	8
Revvity Omics, Revvity	1	5	2	0	0	0	8
Genome-Nilou Lab	0	0	1	1	5	0	7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	3	1	0	0	0	0	4
Caldovic Lab, Children's National Health System	0	4	0	0	0	0	4
Elsea Laboratory, Baylor College of Medicine	0	0	1	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
SingHealth Duke-NUS Institute of Precision Medicine	0	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	1	0	0	0	0	1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	1	0	0	0	0	0	1
Breda Genetics srl	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1

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