ClinVar Miner

Variants in gene A2ML1

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 risk factor not provided total
2 2 301 161 147 1 6 564

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 0 0 237 131 107 0 6 471
not specified 0 0 61 46 85 0 0 184
Otitis media, susceptibility to 1 1 15 0 1 1 0 19
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 1 1 0 0 0 2
Noonan syndrome 1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 208 117 44 0 0 369
GeneDx 0 0 28 34 101 0 0 163
Integrated Genetics/Laboratory Corporation of America 0 0 44 24 91 0 0 159
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
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 8 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 0 0 7
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 6 6
OMIM 0 0 3 0 0 1 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Mendelics 0 0 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Lineagen, Inc 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
New York Genome Center 0 0 1 0 0 0 0 1

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