ClinVar Miner

Variants in gene CEP164

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Gene type:
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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
74 78 735 586 71 2 1456

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 15 72 71 660 549 49 2 1352
CEP164-related disorder 1 5 77 60 4 0 147
Inborn genetic diseases 0 0 132 13 0 0 145
not provided 3 8 38 24 46 0 113
not specified 0 0 9 8 18 0 34
Retinal dystrophy 1 1 8 0 0 0 10
Nephronophthisis 0 0 1 0 0 0 1
Renal dysplasia and retinal aplasia; Nephronophthisis 15 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 67 32 563 545 48 0 1255
Fulgent Genetics, Fulgent Genetics 2 41 251 57 1 0 352
PreventionGenetics, part of Exact Sciences 1 5 77 63 19 0 165
Ambry Genetics 0 0 132 13 0 0 145
GeneDx 3 7 24 1 33 0 68
Breakthrough Genomics, Breakthrough Genomics 0 0 5 7 39 0 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 6 5 0 0 13
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 0 8 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Eurofins Ntd Llc (ga) 0 0 5 0 2 0 7
CeGaT Center for Human Genetics Tuebingen 0 1 0 5 0 0 6
OMIM 5 0 0 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 1 2 2 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 4 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Baylor Genetics 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Mendelics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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