ClinVar Miner

Variants in gene SH3BP2

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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
10 3 355 250 154 3 726

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fibrous dysplasia of jaw 9 3 338 236 135 0 690
not provided 4 0 17 8 29 3 57
Inborn genetic diseases 0 0 29 4 0 0 33
SH3BP2-related condition 0 0 8 9 1 0 18
not specified 0 0 0 0 11 0 11
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 1 287 218 42 0 553
Illumina Laboratory Services, Illumina 0 0 47 20 110 0 177
GeneDx 3 0 4 1 27 0 35
Ambry Genetics 0 0 29 4 0 0 33
PreventionGenetics, part of Exact Sciences 0 0 8 9 7 0 24
Mayo Clinic Laboratories, Mayo Clinic 0 0 10 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 1 5 4 0 0 10
OMIM 7 0 0 0 0 0 7
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 7 0 7
CeGaT Center for Human Genetics Tuebingen 1 0 1 2 2 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 1 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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