ClinVar Miner

Variants in gene NPHP4

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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
42 26 574 188 72 779

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephronophthisis 26 9 328 126 57 543
not provided 9 8 295 35 2 344
Nephronophthisis 4 11 4 120 18 31 181
Senior-Loken syndrome 4 5 1 109 19 33 167
not specified 0 0 4 25 44 70
Nephronophthisis 4; Senior-Loken syndrome 4 0 1 12 0 0 13
Retinal dystrophy 0 2 5 0 0 7
Renal dysplasia and retinal aplasia 0 0 4 1 0 5
NPHP4-Related Disorders 0 0 3 0 0 3
Leber congenital amaurosis 0 0 2 0 0 2
Infertility; Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 6 322 150 59 560
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 1 283 15 28 334
Illumina Clinical Services Laboratory,Illumina 0 0 121 28 34 169
PreventionGenetics, PreventionGenetics 0 0 0 10 27 37
Fulgent Genetics,Fulgent Genetics 0 0 12 0 0 12
Gharavi Laboratory,Columbia University 1 4 5 0 0 10
GeneDx 1 1 7 0 0 9
Sydney Genome Diagnostics,Children's Hospital Westmead 4 2 3 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 7 0 1 8
OMIM 7 0 0 0 0 7
Baylor Genetics 0 1 6 0 0 7
Blueprint Genetics 0 2 5 0 0 7
Mendelics 0 0 1 1 4 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 3 1 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 2 0 0 2
GeneReviews 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1

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