ClinVar Miner

Variants in gene MACF1

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Gene type:

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
9 20 983 772 264 97 1935

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1 1 587 447 260 0 1235
Inborn genetic diseases 0 0 265 318 1 0 584
Lissencephaly 9 with complex brainstem malformation 8 11 102 25 29 1 172
MACF1-related disorder 0 0 32 82 32 0 146
not specified 0 0 25 10 2 0 37
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
Acute myeloid leukemia 0 0 0 0 0 11 11
Cervical cancer 0 0 0 0 0 11 11
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Malignant tumor of esophagus 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Gastric cancer 0 0 0 0 0 6 6
Malignant tumor of urinary bladder 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 6 6
Spectraplakinopathy type I 0 0 6 0 0 0 6
Lissencephaly with decussation defect 5 0 0 0 0 0 5
Lung cancer 0 0 0 0 0 5 5
Short stature 0 2 3 0 0 0 5
lissencephaly with brainstem hypoplasia 0 5 0 0 0 0 5
Colon adenocarcinoma 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
See cases 0 0 3 1 0 0 4
Cholangiocarcinoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Abnormal corpus callosum morphology 0 0 2 0 0 0 2
Lissencephaly 2 1 0 0 0 0 2
Prostate cancer 0 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Abducens nerve palsy; Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Cleft palate 0 0 1 0 0 0 1
Congenital cerebellar hypoplasia 0 0 1 0 0 0 1
Epilepsy 0 0 1 0 0 0 1
Facial hemangioma; Isolated unilateral hemispheric cerebellar hypoplasia 0 0 1 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Global developmental delay 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Skeletal dysplasia 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 249 346 163 0 759
Ambry Genetics 0 0 266 318 1 0 585
GeneDx 0 1 297 0 97 0 395
CeGaT Center for Human Genetics Tuebingen 0 0 38 114 28 0 180
PreventionGenetics, part of Exact Sciences 0 0 32 82 32 0 146
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 96 96
Breakthrough Genomics, Breakthrough Genomics 0 0 2 7 69 0 78
Genome-Nilou Lab 0 0 6 14 28 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 22 0 0 0 22
Revvity Omics, Revvity 0 0 16 0 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 6 1 0 15
New York Genome Center 0 0 14 0 0 0 14
Baylor Genetics 0 1 10 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 5 6 0 0 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 10 1 0 11
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 8 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 2 0 0 8
Dobyns Lab, Seattle Children's Research Institute 6 0 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 0 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 1 0 0 0 7
Institute of Human Genetics, Cologne University 0 0 6 0 0 0 6
OMIM 6 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 5 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 4 0 0 0 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 3 0 0 0 5
3billion 0 2 2 0 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 3
Mendelics 1 0 1 0 1 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 0 1 1 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 2
Dasa 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genic Hereditary Care, Genicomics Research Opc Pvt Ltd 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1

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