ClinVar Miner

Variants in gene combination NPHP3, NPHP3-ACAD11

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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
41 15 255 85 57 382

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 17 10 144 23 19 204
Nephronophthisis 16 1 77 26 29 148
Renal-hepatic-pancreatic dysplasia 1 4 0 71 8 23 105
Nephronophthisis 3 9 2 64 8 17 100
Meckel syndrome type 7 3 1 72 11 3 90
not specified 0 0 4 43 25 58
Meckel-Gruber syndrome 0 0 12 0 2 14
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 1 0 5 0 0 6
Inborn genetic diseases 0 1 0 0 0 1
Leber congenital amaurosis 0 0 1 0 0 1
Polycystic kidney dysplasia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 1 133 12 10 170
Invitae 14 1 66 43 28 152
Illumina Clinical Services Laboratory,Illumina 0 0 87 20 21 102
GeneDx 3 1 10 29 28 71
PreventionGenetics,PreventionGenetics 0 0 0 15 23 38
Gharavi Laboratory,Columbia University 1 3 6 0 0 10
OMIM 9 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 3 6
Blueprint Genetics 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 3
Mendelics 0 0 0 0 3 3
GeneReviews 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 0 0 2
Molecular Genetics Laboratory,CHU Lille 1 0 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 0 1
Ambry Genetics 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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