ClinVar Miner

Variants in gene NPHP1

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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
77 53 353 392 58 1 861

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 62 17 262 334 23 1 699
not provided 10 2 90 44 34 0 174
Joubert syndrome with renal defect 10 36 43 4 4 0 97
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 4 8 51 12 0 0 75
Nephronophthisis 1 9 1 40 4 4 0 58
Senior-Loken syndrome 1 0 0 36 6 4 0 46
NPHP1-related condition 1 0 5 32 2 0 40
not specified 0 0 8 17 16 0 32
Inborn genetic diseases 2 0 22 6 0 0 30
Joubert syndrome and related disorders 1 5 0 0 0 0 6
Kidney disorder 0 0 1 2 0 0 3
Familial aplasia of the vermis 0 0 2 0 0 0 2
NPHP1-Related Disorders 1 0 1 0 0 0 2
Renal dysplasia and retinal aplasia 0 0 2 0 0 0 2
Bardet-Biedl syndrome 1 0 0 0 0 0 1
Bardet-Biedl syndrome 1 0 0 1 0 0 0 1
Congenital anomaly of kidney and urinary tract 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 0 0 1 0 1
Intellectual disability, X-linked 102 0 0 0 0 1 0 1
Joubert syndrome 1 0 0 0 0 1 0 1
Leber congenital amaurosis 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 61 16 261 337 23 0 698
GeneDx 2 0 25 35 36 0 98
Eurofins Ntd Llc (ga) 6 0 70 7 8 0 91
Fulgent Genetics, Fulgent Genetics 4 8 50 12 0 0 74
PreventionGenetics, part of Exact Sciences 1 0 5 36 12 0 54
Baylor Genetics 10 36 4 0 0 0 50
Illumina Laboratory Services, Illumina 1 0 41 6 4 0 50
Ambry Genetics 2 0 22 6 0 0 30
CeGaT Center for Human Genetics Tuebingen 3 1 1 8 2 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 6 2 0 0 14
Genetic Services Laboratory, University of Chicago 4 0 2 4 2 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 2 3 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 3 0 5
OMIM 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 1 2 1 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 3 0 4
Revvity Omics, Revvity 1 0 2 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 3
Clinical Genetics, Academic Medical Center 1 0 0 0 1 0 2
GeneReviews 1 0 0 0 0 1 2
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 1 0 1 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1

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