ClinVar Miner

Variants in gene NPHP4

Minimum submission review status: Collection method:
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Gene type:
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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
20 15 411 121 72 541

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 8 292 36 3 341
Nephronophthisis 6 1 100 49 56 211
Nephronophthisis 4 7 2 115 18 31 170
Senior-Loken syndrome 4 4 0 107 19 33 163
not specified 0 0 4 25 43 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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 283 15 28 334
Invitae 4 1 96 81 59 241
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
OMIM 7 0 0 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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 1

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