ClinVar Miner

Variants studied for autosomal recessive ataxia, Beauce type

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
35 9 409 89 109 1 652

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
SYNE1 34 9 399 88 108 1 639
ESR1, SYNE1 0 0 10 1 1 0 12
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 3 392 89 109 0 603
Fulgent Genetics,Fulgent Genetics 1 0 13 0 0 0 14
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 1 10 0 0 0 14
OMIM 10 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 8 1 0 0 0 0 9
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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