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 74 57 108 1 6 237

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 36 17 77 0 6 133
not specified 0 0 17 42 44 0 0 99
Otitis media, susceptibility to 1 1 14 0 0 1 0 17
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: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 0 0 28 34 101 0 0 163
Invitae 0 0 15 25 37 0 0 77
Santos-Cortez Lab,University of Colorado School of Medicine 1 1 13 0 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 12 0 0 12
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 8 0 0 0 0 9
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 6 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 0 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
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
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 0 1

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