ClinVar Miner

Variants in gene combination BEST1, FTH1

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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
5 3 31 19 18 8 57

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 1 12 12 16 8 39
Vitelliform macular dystrophy 2 3 3 2 13 7 0 25
Autosomal dominant vitreoretinochoroidopathy 0 0 2 13 6 0 21
Retinitis Pigmentosa, Recessive 0 0 0 13 6 0 19
Retinitis pigmentosa 0 0 9 6 3 0 18
Iron Overload 0 0 1 11 5 0 17
Hemochromatosis type 5 0 0 7 0 6 0 13
Retinal dystrophy 1 0 1 0 4 0 5
not specified 0 0 0 0 5 0 5
FTH1-related condition 0 0 1 2 1 0 4
Inborn genetic diseases 0 0 4 0 0 0 4
Autosomal recessive bestrophinopathy 1 1 0 0 1 0 2
BEST1-related condition 0 0 0 2 0 0 2
Neurodegeneration with brain iron accumulation 9 2 0 0 0 0 0 2
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 1 0 0 0 0 0 1
Retinitis pigmentosa 50 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 10 8 11 0 31
Illumina Laboratory Services, Illumina 0 0 14 15 10 0 27
GeneDx 1 0 1 3 9 0 14
PreventionGenetics, part of Exact Sciences 0 0 1 4 4 0 9
Retina International 0 0 0 0 0 8 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 3 3 0 7
Eurofins Ntd Llc (ga) 0 0 1 0 5 0 6
CeGaT Center for Human Genetics Tuebingen 2 0 1 2 1 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 3 0 5
Dept Of Ophthalmology, Nagoya University 1 0 0 0 4 0 5
Ambry Genetics 0 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
OMIM 2 0 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 2
Mendelics 1 0 0 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1

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