Variants studied for autosomal recessive degenerative and progressive cerebellar ataxia

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
60	32	363	143	97	6	669

Gene and significance breakdown #

Total genes and gene combinations: 17

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SIL1	24	9	140	117	18	0	288
FLVCR1	12	6	95	9	47	1	166
TWNK	10	11	65	8	7	4	98
FLVCR2	0	0	42	5	16	0	63
CTDP1	1	0	10	2	6	1	19
FXN	6	4	0	1	0	0	11
FLVCR1, LOC129932486	0	0	4	0	1	0	5
FXN, LOC130001862	2	1	1	0	1	0	5
LOC129994751, SIL1	0	0	4	1	0	0	5
FXN, LOC108510657	2	0	0	0	0	0	2
ATXN8, ATXN8OS	1	0	0	0	0	0	1
ATXN8, ATXN8OS, LOC109461478	0	0	0	0	1	0	1
ATXN8OS	0	1	0	0	0	0	1
EIF2A	0	0	1	0	0	0	1
FLVCR1, LOC129932485	0	0	1	0	0	0	1
GJA3	1	0	0	0	0	0	1
PITRM1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 48

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	1	1	223	26	76	0	326
Labcorp Genetics (formerly Invitae), Labcorp	15	3	88	113	17	0	236
Revvity Omics, Revvity	3	3	56	0	0	0	62
OMIM	32	1	0	0	1	0	34
Fulgent Genetics, Fulgent Genetics	0	1	11	3	1	0	16
Baylor Genetics	2	0	13	0	0	0	15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	9	0	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	5	3	0	0	0	0	8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	7	0	7
Genome-Nilou Lab	0	0	0	0	7	0	7
Mendelics	1	2	0	1	2	0	6
GeneReviews	0	0	0	0	0	5	5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	3	0	0	0	4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	1	3	0	0	0	0	4
3billion, Medical Genetics	0	1	2	1	0	0	4
MGZ Medical Genetics Center	1	0	2	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	1	0	0	0	3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	3	0	0	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	1	0	0	0	0	2
King Laboratory, University of Washington	1	1	0	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	0	2
Ocular Genomics Institute, Massachusetts Eye and Ear	0	2	0	0	0	0	2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	1	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	2	0	0	0	0	0	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	1	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
Kids Neuroscience Centre, Sydney Children's Hospitals Network	1	1	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	0	1
Institute of Human Genetics, Cologne University	1	0	0	0	0	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
IRCCS Fondazione Stella Maris, University of Pisa	1	0	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	0	0	1
Department of Biochemistry, Faculty of Medicine, University of Khartoum	1	0	0	0	0	0	1
Institute of Genomic Medicine, Catholic University	0	0	0	1	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Genomics England Pilot Project, Genomics England	1	0	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
Solve-RD Consortium	0	1	0	0	0	0	1

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