ClinVar Miner

Variants in gene combination NPHP3, NPHP3-ACAD11

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Minimum submission review status: Collection method:
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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
56 24 351 120 57 524

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephronophthisis 32 6 188 65 29 319
not provided 17 10 145 23 19 205
Nephronophthisis 3 14 6 64 8 17 109
Renal-hepatic-pancreatic dysplasia 1 4 0 71 8 23 105
Meckel syndrome type 7 6 1 75 11 3 96
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 disease 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 5 178 79 28 321
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 14 1 133 12 10 170
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
Molecular Biology Laboratory, Fundació Puigvert 6 2 0 0 0 8
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
Baylor Genetics 2 0 2 0 0 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 3
GeneReviews 2 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
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
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 0 1

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