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 1 201 145 134 1 6 448

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 0 0 146 118 107 0 6 368
not specified 0 0 37 34 70 0 0 135
Otitis media, susceptibility to 1 1 15 0 1 1 0 19
Nonsyndromic otitis media 1 0 8 0 0 0 0 9
Noonan syndrome 0 0 1 0 0 0 0 1
Noonan syndrome 1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 0 0 125 104 44 0 0 273
GeneDx 0 0 28 34 101 0 0 163
Integrated Genetics/Laboratory Corporation of America 0 0 20 11 74 0 0 105
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1

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