ClinVar Miner

Variants studied for megaloblastic anemia

Included ClinVar conditions (12):
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
167 224 1565 1080 326 14 3185

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 76 128 972 520 158 3 1714
AMN 28 36 112 314 25 1 500
FTCD 15 33 95 102 37 1 271
UMPS 5 2 117 20 49 0 190
SLC19A2 17 8 108 3 12 0 147
SARM1, SLC46A1 4 1 72 10 23 4 111
AMN, LOC130056554 5 6 19 66 1 0 95
SLC46A1 8 2 19 4 2 4 36
CUBN, LOC126860871 1 2 9 10 3 0 24
AMN, LOC130056553 1 3 2 17 2 0 23
LOC129931894, SLC19A2 2 0 17 0 0 0 18
COL6A2, FTCD 0 0 4 10 3 0 16
CUBN, LOC129390143 0 1 10 4 2 0 16
DHFR, MSH3 0 0 0 0 9 0 9
LOC130060550, SLC46A1 1 1 4 0 0 0 6
DHFR 2 0 1 0 0 0 3
LOC130060548, SARM1, SLC46A1 0 0 2 0 0 0 2
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 1
LOC120893165, SLC19A2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 100 41 652 982 208 0 1983
Fulgent Genetics, Fulgent Genetics 23 129 695 72 4 0 923
Illumina Laboratory Services, Illumina 1 2 499 78 167 0 747
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
OMIM 43 0 0 0 0 0 43
Genome-Nilou Lab 0 0 0 0 34 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 2 20 0 27
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 5 9 11 0 0 0 25
Baylor Genetics 2 0 10 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 3 0 0 0 9
GeneReviews 0 0 0 0 0 8 8
Revvity Omics, Revvity 2 1 4 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 0 0 0 0 7
MVZ Medizinische Genetik Mainz 4 1 1 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
3billion, Medical Genetics 3 0 1 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 4 1 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Mendelics 1 0 2 0 0 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 3 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Clinic of Pediatric and Adolescent Medicine, University Hospital Ulm 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Hematology, Children's Hospital Affiliated to Kunming Medical University 1 0 0 0 0 0 1

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