Variants studied for PHARC 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	total
14	5	42	2	18	81

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ABHD12	11	4	30	2	13	60
ABHD12, LOC130065586	0	0	8	0	3	11
ABHD12, LOC126863008	0	1	3	0	0	4
ABHD12, LOC130065583, LOC130065584, LOC130065585, LOC130065586	3	0	0	0	0	3
ABHD12, LOC130065585	0	0	1	0	2	3

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	36	2	13	51
OMIM	7	0	0	0	0	7
Genome-Nilou Lab	0	0	0	0	7	7
Revvity Omics, Revvity	2	0	2	0	0	4
Baylor Genetics	0	0	2	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	2	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	0	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	1
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center	1	0	0	0	0	1
Yong Feng Lab, Central South University	1	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences	1	0	0	0	0	1
DASA	1	0	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center	0	1	0	0	0	1

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