Variants studied for Peters plus syndrome

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
9	7	103	67	47	3	221

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	not provided	total
B3GLCT	9	7	95	66	46	3	212
B3GLCT, LOC130009514	0	0	7	1	1	0	8
FGF8	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	3	3	40	60	21	0	127
Illumina Laboratory Services, Illumina	1	0	63	7	25	0	96
Genome-Nilou Lab	0	0	0	0	14	0	14
OMIM	5	0	0	0	0	0	5
GeneReviews	0	0	0	0	0	3	3
Baylor Genetics	1	0	1	0	0	0	2
Revvity Omics, Revvity	1	1	0	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	1	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	1	0	0	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
Genetics Department, University Hospital of Toulouse	0	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	1	0	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	0	1

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