Variants studied for dermis disorder

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
80	31	138	56	49	17	353

Gene and significance breakdown #

Total genes and gene combinations: 18

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ANTXR2	16	14	101	16	29	0	174
GNAS	11	2	12	33	3	1	60
ECM1	15	7	3	2	4	7	33
KCTD1	10	1	2	1	0	0	13
KIT	5	1	3	3	0	0	11
HCCS	2	1	5	0	0	4	10
ITPR2	1	0	1	1	7	0	10
GPNMB	7	2	0	0	0	0	9
NDUFB11	2	2	4	0	0	2	8
OSMR	5	0	1	0	0	0	6
COX7B	3	0	2	0	0	3	5
IL31RA	1	0	0	0	4	0	5
ANTXR2, LOC129992737	0	0	1	0	1	0	2
ANTXR2, LOC129992738	0	0	1	0	1	0	2
BMS1	1	0	1	0	0	0	2
ADAR	0	0	1	0	0	0	1
FH	0	1	0	0	0	0	1
HCCS, HCCS-DT, LOC130067938	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 50

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	102	15	29	0	146
Fulgent Genetics, Fulgent Genetics	8	0	11	39	3	0	61
OMIM	54	0	0	0	0	0	54
Genome-Nilou Lab	1	1	1	2	20	0	25
GeneReviews	0	0	0	0	0	16	16
University of Washington Center for Mendelian Genomics, University of Washington	10	0	0	0	0	0	10
Revvity Omics, Revvity	2	5	2	0	0	0	9
Baylor Genetics	3	1	3	0	0	0	7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	2	2	0	0	0	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	3	0	0	0	4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	2	0	0	0	0	4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	3	1	0	0	0	0	4
3billion	3	1	0	0	0	0	4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	2	2	0	0	0	0	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	2	1	0	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	0	3
Medical Genetics Laboratory, Etlik City Hospital	2	1	0	0	0	0	3
Mendelics	0	0	1	0	1	0	2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	1	0	0	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	0	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	0	0	0	0	0	2
Breda Genetics srl	0	0	2	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	1	1	0	0	0	2
New York Genome Center	1	0	1	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	0	1
Center for Personalized Medicine, Children's Hospital Los Angeles	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
Clinical Genetics Department, Hospital Sant Joan de Deu	1	0	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	1	0	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	1	0	0	0	0	1
Pars Genome Lab	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Suma Genomics	0	1	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	0	1
Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences	0	1	0	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	0	0	1

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