ClinVar Miner

Variants in gene A2ML1

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Gene type:

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
2 2 1126 750 269 37 2001

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 810 575 235 7 1578
not specified 0 0 566 324 107 0 939
A2ML1-related disorder 0 0 27 45 12 0 84
Otitis media, susceptibility to 2 1 35 6 4 0 48
Otitis media 0 2 14 0 0 0 16
Nonsyndromic otitis media 1 0 8 0 0 0 9
Noonan syndrome 0 0 5 1 0 0 6
Cervical cancer 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Malignant tumor of urinary bladder 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Noonan syndrome 1 0 0 1 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 778 490 74 0 1342
Ambry Genetics 0 0 497 266 0 0 763
GeneDx 0 0 24 92 217 0 333
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 85 58 106 0 249
Breakthrough Genomics, Breakthrough Genomics 0 0 3 21 84 0 108
PreventionGenetics, part of Exact Sciences 0 0 27 45 12 0 84
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 14 19 0 34
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 30 30
Clinical Genetics, Academic Medical Center 0 0 0 2 25 0 27
CeGaT Center for Human Genetics Tuebingen 0 0 9 14 2 0 25
Fulgent Genetics, Fulgent Genetics 0 0 15 6 2 0 23
University of Washington Center for Mendelian Genomics, University of Washington 0 2 14 0 0 0 16
Santos-Cortez Lab, University of Colorado School of Medicine 1 1 13 0 0 0 15
Department of Human Genetics, University Hospital Magdeburg 0 0 8 5 1 0 14
Revvity Omics, Revvity 0 0 13 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 10 1 0 12
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 8 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 6 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 6 6
OMIM 1 0 3 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
Mendelics 0 0 2 0 1 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1

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