ClinVar Miner

Variants in gene SPRED1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
125 54 530 303 74 2 995

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Legius syndrome 117 30 389 198 38 2 760
Cardiovascular phenotype 9 2 159 139 10 0 319
not provided 13 16 72 40 45 0 176
not specified 0 0 35 32 17 0 82
Noonan syndrome and Noonan-related syndrome 6 5 14 5 13 0 43
SPRED1-related disorder 0 1 2 10 2 0 15
Noonan syndrome 0 0 4 4 0 0 8
Neurofibromatosis, type 1 0 3 0 0 0 0 3
Inborn genetic diseases 1 1 0 0 0 0 2
Costello syndrome 0 0 1 0 0 0 1
Male infertility with spermatogenesis disorder 1 0 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 0 1 0 0 0 1
RASopathy 0 0 0 1 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 105 11 298 176 19 0 609
Ambry Genetics 10 3 159 139 10 0 321
Illumina Laboratory Services, Illumina 0 0 87 22 21 0 130
GeneDx 8 8 57 25 29 0 127
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 28 23 18 0 71
Genome Diagnostics Laboratory, The Hospital for Sick Children 6 5 14 5 13 0 43
CeGaT Center for Human Genetics Tuebingen 3 3 7 19 4 0 36
Breakthrough Genomics, Breakthrough Genomics 0 0 4 8 21 0 33
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 4 7 7 0 20
PreventionGenetics, part of Exact Sciences 0 1 2 11 6 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 4 6 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 5 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 6 3 1 0 0 0 10
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 6 4 0 0 10
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 7 0 10
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 9 0 0 0 9
Eurofins Ntd Llc (ga) 1 0 1 1 5 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 5 0 8
Clinical Genetics, Academic Medical Center 0 0 0 0 6 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 5 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 1 0 0 4
GeneReviews 0 0 0 0 2 2 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Baylor Genetics 1 0 2 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion 1 2 0 0 0 0 3
NHS Central & South Genomic Laboratory Hub 0 3 0 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1

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