ClinVar Miner

Variants studied for spastic ataxia 2

Included ClinVar conditions (1):
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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
15 8 178 221 52 465

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KIF1C 13 7 155 183 41 390
KIF1C, LOC126862473 0 1 14 18 5 38
KIF1C, LOC126862472 2 0 8 20 6 36
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 169 218 52 446
Baylor Genetics 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
Paris Brain Institute, Inserm - ICM 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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