ClinVar Miner

Variants in gene HERC1

Minimum submission review status: Collection method:
Minimum conflict level:
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
26 24 672 635 232 1513

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 17 17 392 607 231 1208
Inborn genetic diseases 3 0 305 16 1 325
Macrocephaly, dysmorphic facies, and psychomotor retardation 7 3 44 9 11 72
HERC1-related disorder 0 2 10 35 9 56
not specified 0 0 14 6 3 23
See cases 0 1 2 0 0 3
Intellectual disability 0 0 2 0 0 2
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability 1 1 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 2
Premature ovarian insufficiency 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 16 4 259 429 107 815
GeneDx 1 12 156 148 152 469
Ambry Genetics 3 0 305 16 1 325
Breakthrough Genomics, Breakthrough Genomics 0 0 2 47 61 110
CeGaT Center for Human Genetics Tuebingen 0 0 9 70 3 82
PreventionGenetics, part of Exact Sciences 0 2 10 35 9 56
Baylor Genetics 0 0 17 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 7 2 0 11
Genome-Nilou Lab 0 0 0 0 11 11
Genetic Services Laboratory, University of Chicago 0 0 5 4 1 10
Revvity Omics, Revvity 0 1 8 0 0 9
OMIM 5 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 5 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 4 0 5
New York Genome Center 0 0 5 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 3 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 3 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 2 4
3billion 0 0 0 4 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 2 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Molecular and pathophysiological bases of cognitive disorders, Institute Imagine 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 1

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