ClinVar Miner

Variants in gene CEP164

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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 total
11 8 247 98 35 391

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephronophthisis 15 10 4 240 78 24 355
not provided 1 3 11 22 3 39
not specified 0 0 0 3 16 19
Retinal dystrophy 0 1 1 0 0 2
Nephronophthisis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 238 93 26 360
PreventionGenetics, PreventionGenetics 0 0 0 3 15 18
GeneDx 1 3 3 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 0 2 7
OMIM 5 0 0 0 0 5
Baylor Genetics 1 0 2 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Blueprint Genetics 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 1

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