ClinVar Miner

Variants in gene combination AFG3L2, TUBB6

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Minimum submission review status: Collection method:
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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 total
1 0 31 8 7 42

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic uncertain significance likely benign benign total
not provided 0 19 6 5 28
Spinocerebellar ataxia type 28 0 8 1 5 13
not specified 0 4 1 2 7
Inborn genetic diseases 0 5 0 0 5
AFG3L2-related disorder 0 0 2 1 3
Spastic ataxia 5 0 2 0 1 3
Spinocerebellar ataxia type 28; Spastic ataxia 5; Optic atrophy 12 0 2 0 0 2
Optic atrophy 1 0 0 0 1
Optic atrophy 12 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic uncertain significance likely benign benign total
GeneDx 0 9 4 2 15
Illumina Laboratory Services, Illumina 0 7 0 5 12
Labcorp Genetics (formerly Invitae), Labcorp 0 6 3 2 11
Athena Diagnostics 0 4 0 2 6
Ambry Genetics 0 5 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 3 1 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 1 3 4
PreventionGenetics, part of Exact Sciences 0 0 2 1 3
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 3
Fulgent Genetics, Fulgent Genetics 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 1
Revvity Omics, Revvity 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1

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