ClinVar Miner

Variants in gene combination NPHP3, NPHP3-ACAD11

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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
35 12 201 58 33 292

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 17 9 144 1 3 170
Nephronophthisis 12 1 71 21 26 121
Renal-hepatic-pancreatic dysplasia 6 0 51 9 3 69
Meckel-Gruber syndrome 0 0 51 9 3 63
not specified 0 0 4 43 25 58
Adolescent nephronophthisis 11 2 2 0 0 15
Renal-hepatic-pancreatic dysplasia; Adolescent nephronophthisis; Meckel syndrome type 7 1 0 5 0 0 6
Meckel syndrome type 7 2 0 0 0 0 2
Inborn genetic diseases 0 1 0 0 0 1
Leber congenital amaurosis 0 0 1 0 0 1
Polycystic kidney dysplasia 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 1 133 12 10 170
Invitae 10 1 24 12 23 70
Illumina Clinical Services Laboratory,Illumina 0 0 53 9 3 65
GeneDx 3 1 10 24 13 51
PreventionGenetics 0 0 0 15 23 38
Gharavi Laboratory,Columbia University 1 3 6 0 0 10
OMIM 9 0 0 0 0 9
Fulgent Genetics 1 0 5 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 3 6
Blueprint Genetics, 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 3
GeneReviews 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 1
Ambry Genetics 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 1

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