ClinVar Miner

Variants in gene combination GFAP, LOC130060994

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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
11 5 10 2 1 21 40

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alexander disease 7 1 2 0 0 17 27
not provided 4 2 6 2 1 17 26
GFAP-related disorder 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Progressive ventriculomegaly 0 1 0 0 0 0 1
not specified 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneReviews 4 0 0 0 0 17 21
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 17 17
Labcorp Genetics (formerly Invitae), Labcorp 3 1 4 2 0 0 10
GeneDx 2 0 2 0 1 0 5
3billion 1 0 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1

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