ClinVar Miner

Variants in gene SPRED1

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 total
55 16 202 83 49 382

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Legius syndrome 53 8 174 50 30 310
not provided 4 7 15 24 25 72
not specified 0 0 16 21 13 48
Noonan syndrome 0 0 4 4 0 8
Inborn genetic diseases 1 1 0 0 0 2
Costello syndrome 0 0 1 0 0 1
Neurofibromatosis-Noonan syndrome 0 0 1 0 0 1
Rasopathy 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 44 5 85 39 10 183
Illumina Clinical Services Laboratory,Illumina 0 0 90 23 22 135
GeneDx 1 4 15 18 20 58
Integrated Genetics/Laboratory Corporation of America 1 0 8 8 14 31
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 4 7 7 19
Center for Human Genetics, Inc,Center for Human Genetics, Inc 6 3 1 0 0 10
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 6 4 0 10
OMIM 9 0 0 0 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 1 5 8
PreventionGenetics, PreventionGenetics 0 0 0 2 4 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 5 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 1 0 4
GeneReviews 0 0 0 0 4 4
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Baylor Genetics 1 0 2 0 0 3
Ambry Genetics 1 1 0 0 0 2
Mendelics 2 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1

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