ClinVar Miner

Variants studied for anophthalmia/microphthalmia-esophageal atresia syndrome

Included ClinVar conditions (2):
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 total
73 12 38 33 11 163

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LOC108281177, SOX2, SOX2-OT 52 9 27 18 4 108
SOX2, SOX2-OT 12 3 10 15 7 45
​intergenic 1 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, ATP11B, B3GNT5, CAMK2N2, CHRD, CLCN2, DCUN1D1, DVL3, ECE2, EIF2B5, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAGEF1, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, SOX2, SOX2-OT, THPO, VPS8, VWA5B2, YEATS2 1 0 0 0 0 1
ACTL6A, CCDC39, DNAJC19, FXR1, LINC01206, LINC02053, LOC101928882, LOC102724604, LOC108281177, LOC108281178, LOC110120606, LOC110120632, LOC110120734, LOC114004376, LOC123256953, LOC123256954, LOC123256955, LOC126806881, LOC126806882, LOC126806883, LOC129937982, LOC129937983, LOC129937984, LOC129937985, LOC129937986, LOC129937987, LOC129937988, LOC129937989, LOC129937990, LOC129937991, LOC129937992, LOC129937993, LOC129937994, LOC129937995, LOC129937996, LOC129937997, MRPL47, NDUFB5, PEX5L, SOX2, SOX2-OT, TTC14, TTC14-DT, USP13 1 0 0 0 0 1
ATP11B, B3GNT5, DCUN1D1, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, PARL, SOX2, SOX2-OT, YEATS2 1 0 0 0 0 1
B3GNT5, LAMP3, MCF2L2 1 0 0 0 0 1
C14orf39, SIX6 0 0 1 0 0 1
CCDC39, DNAJC19, FXR1, SOX2, SOX2-OT, TTC14 1 0 0 0 0 1
DNAJC19, SOX2, SOX2-OT 1 0 0 0 0 1
LOC108281177, LOC108281178, LOC123256955, SOX2, SOX2-OT 1 0 0 0 0 1
MCF2L2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 26 2 29 33 11 101
Anophthalmia/Microphthalmia Research Registry, Einstein Medical Center Philadelphia 24 0 2 0 0 26
OMIM 17 0 0 0 0 17
Revvity Omics, Revvity 2 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Division of Critical Care, Department of Pediatrics, Cardinal Glennon Children's Hospital 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 1

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