ClinVar Miner

Variants studied for Microcephaly, normal intelligence and immunodeficiency

Coded as:
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
311 173 1513 915 68 16 2865

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NBN 295 160 1456 880 65 16 2747
LOC126860438, NBN 13 12 52 35 3 0 109
LOC126860438, LOC130000714, NBN 1 0 2 0 0 0 3
DECR1, NBN 0 0 2 0 0 0 2
LOC130000714, NBN 1 0 1 0 0 0 2
GCK 0 1 0 0 0 0 1
LOC126860438, LOC130000714, NBN, OSGIN2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 301 105 1403 881 52 0 2742
Genome-Nilou Lab 75 8 574 48 12 0 717
Natera, Inc. 8 9 250 13 11 0 291
Counsyl 1 46 52 15 1 0 115
Illumina Laboratory Services, Illumina 0 0 61 7 27 0 95
Mendelics 3 3 28 11 1 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 14 0 0 0 0 29
Myriad Genetics, Inc. 0 19 0 0 0 0 19
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 1 10 3 0 0 16
GeneReviews 2 0 0 0 0 11 13
OMIM 9 0 0 0 0 0 9
Baylor Genetics 2 3 2 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 2 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Innovations Lab, Hyderabad, Tata Consultancy Services Ltd 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1

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