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
15 10 352 57 53 439

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 8 290 3 0 309
Nephronophthisis 3 0 100 30 31 145
Renal dysplasia and retinal aplasia 0 0 81 17 2 100
not specified 0 0 2 25 43 68
Nephronophthisis 4; Senior-Loken syndrome 4 0 1 12 0 0 13
Nephronophthisis 4 6 0 3 0 0 9
NPHP4-Related Disorders 0 0 3 0 0 3
Leber congenital amaurosis 0 0 2 0 0 2
Senior-Loken syndrome 4 2 0 0 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: 16
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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
Illumina Clinical Services Laboratory,Illumina 0 0 85 17 2 104
Invitae 1 0 22 13 29 65
PreventionGenetics 0 0 0 10 27 37
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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 1

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