ClinVar Miner

Variants in gene AMER1

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
31 12 282 166 103 20 546

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 5 214 129 103 0 451
Inborn genetic diseases 2 0 32 39 1 0 74
Osteopathia striata with cranial sclerosis 15 7 23 6 1 1 52
not specified 0 0 6 6 2 19 31
AMER1-related disorder 1 0 14 11 3 0 29
Colorectal cancer 3 1 0 0 0 0 4
Cleft palate 1 0 0 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly; Ventriculomegaly; Myocarditis 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Spinocerebellar ataxia, X-linked 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 1 180 109 101 0 401
Ambry Genetics 2 0 32 39 1 0 74
GeneDx 7 5 26 2 4 0 44
PreventionGenetics, part of Exact Sciences 1 0 14 11 3 0 29
CeGaT Center for Human Genetics Tuebingen 0 0 5 16 0 0 21
ITMI 0 0 0 0 0 19 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 5 0 0 11
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 9 0 11
Revvity Omics, Revvity 2 0 8 0 0 0 10
OMIM 7 0 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 3 3 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
Baylor Genetics 0 1 4 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 5
Mendelics 0 1 1 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 0 0 3
Women's and Children's Health, University of Otago 3 0 0 0 0 0 3
Genomic Center, National Cancer Institute 3 0 0 0 0 0 3
3billion 1 2 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 1 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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
Cytogenetics Laboratory, University of Washington 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 1 0 0 0 1
Center for Molecular Medicine, Karolinska Institute 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Division of Gastroenterology and Hepatology, Shanghai Institute of Digestive Disease, Shanghai Jiao Tong University School of Medicine. 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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