ClinVar Miner

Variants studied for Spinocerebellar ataxia 45

Coded as:
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Gene type:
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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
3 1 19 4 24 49

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
FAT2, SLC36A1 2 0 16 2 11 29
FAT2 0 1 3 1 12 17
CDH1 0 0 0 1 0 1
FAT2, LOC132089193, SLC36A1 0 0 0 0 1 1
FH 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 24 24
Revvity Omics, Revvity 0 0 5 0 0 5
O&I group, Department of Genetics, University Medical Center of Groningen 1 0 2 0 0 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1

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