ClinVar Miner

Variants in gene HSF4

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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
13 8 87 38 20 1 147

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cataract 5 multiple types 13 3 34 23 17 1 84
Inborn genetic diseases 0 0 44 2 0 0 46
not provided 0 2 10 13 8 0 32
HSF4-related disorder 0 2 6 8 2 0 18
Cataract 0 0 2 0 0 0 2
not specified 0 0 1 0 1 0 2
Developmental cataract 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 3 21 17 3 0 49
Ambry Genetics 0 0 44 2 0 0 46
Illumina Laboratory Services, Illumina 0 0 11 7 15 0 33
GeneDx 0 2 5 8 4 0 19
PreventionGenetics, part of Exact Sciences 0 2 6 8 3 0 19
CeGaT Center for Human Genetics Tuebingen 0 0 2 3 4 0 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 3 0 7
OMIM 4 0 0 0 0 0 4
3billion 2 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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