ClinVar Miner

Variants in gene A2ML1

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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 risk factor not provided total
2 2 994 680 269 1 6 1785

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 0 0 734 517 235 0 6 1443
not specified 0 0 464 288 107 0 0 806
A2ML1-related disorder 0 0 27 45 12 0 0 84
Otitis media, susceptibility to 1 1 33 6 4 1 0 46
Otitis media 0 2 14 0 0 0 0 16
Nonsyndromic otitis media 1 0 8 0 0 0 0 9
Noonan syndrome 0 0 5 1 0 0 0 6
Noonan syndrome 1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 702 431 74 0 0 1207
Ambry Genetics 0 0 393 229 0 0 0 622
GeneDx 0 0 24 92 217 0 0 333
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 85 58 106 0 0 249
Breakthrough Genomics, Breakthrough Genomics 0 0 3 21 84 0 0 108
PreventionGenetics, part of Exact Sciences 0 0 27 45 12 0 0 84
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 14 19 0 0 34
Clinical Genetics, Academic Medical Center 0 0 0 2 25 0 0 27
CeGaT Center for Human Genetics Tuebingen 0 0 9 14 2 0 0 25
Fulgent Genetics, Fulgent Genetics 0 0 15 6 2 0 0 23
University of Washington Center for Mendelian Genomics, University of Washington 0 2 14 0 0 0 0 16
Santos-Cortez Lab, University of Colorado School of Medicine 1 1 13 0 0 0 0 15
Department of Human Genetics, University Hospital Magdeburg 0 0 8 5 1 0 0 14
Revvity Omics, Revvity 0 0 13 0 0 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 10 1 0 0 12
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 8 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 6 0 0 9
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 6 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 0 6
OMIM 0 0 3 0 0 1 0 4
Mendelics 0 0 2 0 1 0 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1

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