ClinVar Miner

Variants in gene SH3BP2

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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
12 1 169 83 120 358

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Fibrous dysplasia of jaw 10 1 169 64 119 340
not provided 3 0 0 22 1 26
not specified 0 0 0 1 6 7

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 116 61 16 197
Illumina Clinical Services Laboratory,Illumina 0 0 48 22 113 183
OMIM 7 0 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 6 6
GeneDx 3 0 0 1 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 3
Baylor Genetics 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 1 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 1

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