ClinVar Miner

Variants in gene MAF

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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 not provided total
19 17 95 63 27 1 206

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 6 34 29 16 0 89
Cataract 21 multiple types; Ayme-Gripp syndrome 4 3 22 31 12 0 72
Inborn genetic diseases 1 1 18 6 1 0 27
MAF-related disorder 1 1 8 7 1 0 18
Ayme-Gripp syndrome 8 1 6 0 1 0 16
not specified 0 0 8 6 2 0 16
Cataract 21 multiple types 4 5 2 1 1 0 13
Developmental cataract 0 4 0 0 0 0 4
Normal pregnancy 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 3 21 31 12 0 71
GeneDx 5 2 21 16 15 0 59
CeGaT Center for Human Genetics Tuebingen 0 2 10 14 2 0 28
Ambry Genetics 1 1 18 6 1 0 27
PreventionGenetics, part of Exact Sciences 1 1 8 9 3 0 22
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 8 4 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 5 0 12
OMIM 10 0 0 0 0 0 10
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 7 0 0 0 0 0 7
New York Genome Center 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 3 0 0 3
Eye Genetics Research Group, Children's Medical Research Institute 0 3 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Molecular Medicine, University of Pavia 0 2 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 0 1
Clinical Genomics, G42 Labs 0 1 0 0 0 0 1

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