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 not provided total
88 60 572 377 91 2 1039

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 64 14 393 287 39 2 796
not provided 20 15 153 75 54 0 295
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 10 10 82 33 0 0 135
Nephronophthisis 3 15 11 62 6 16 0 110
Renal-hepatic-pancreatic dysplasia 1 6 2 67 7 20 0 101
NPHP3-related Meckel-like syndrome 8 2 70 9 3 0 92
NPHP3-related condition 3 6 11 36 1 0 57
not specified 0 0 8 31 27 0 53
Inborn genetic diseases 0 1 44 0 0 0 45
Kidney disorder 0 0 10 3 3 0 16
Meckel-Gruber syndrome 0 0 10 0 1 0 11
Joubert syndrome and related disorders 1 5 0 0 0 0 6
NPHP3-related disorders 0 3 0 0 0 0 3
Enlarged kidney; Multiple renal cysts; Anhydramnios 0 2 0 0 0 0 2
Fibrotic kidney disease 0 2 0 0 0 0 2
Atypical hemolytic-uremic syndrome 0 0 1 0 0 0 1
Bardet-Biedl syndrome 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis 0 0 0 0 1 0 1
Leber congenital amaurosis 0 0 1 0 0 0 1
Polycystic kidney disease 1 0 0 0 0 0 1
Renal-hepatic-pancreatic dysplasia 1 0 0 0 0 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 64 14 385 291 39 0 793
GeneDx 8 4 32 65 60 0 169
Eurofins Ntd Llc (ga) 13 1 116 11 8 0 149
Fulgent Genetics, Fulgent Genetics 10 10 82 33 0 0 135
Illumina Laboratory Services, Illumina 0 0 80 17 19 0 93
PreventionGenetics, part of Exact Sciences 3 6 11 49 22 0 91
Ambry Genetics 0 1 44 0 0 0 45
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 11 3 4 0 18
CeGaT Center for Human Genetics Tuebingen 2 2 3 8 1 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 6 5 0 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 6 3 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 3 0 10
Clinical Genetics, Academic Medical Center 0 0 2 3 5 0 10
Gharavi Laboratory, Columbia University 1 3 6 0 0 0 10
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 0 1 8 0 0 0 9
Molecular Biology Laboratory, Fundació Puigvert 6 2 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 3 1 3 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 1 2 0 5
Blueprint Genetics 0 4 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 1 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
Mendelics 1 0 0 0 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 0 0 0 3
3billion 2 1 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 1 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 1 0 1 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1
Molecular Genetics, Sichuan Provincial Maternity and Child Health Care Hospital 0 1 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1

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