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
9 0 100 83 47 228

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance likely benign benign total
Fibrous dysplasia of jaw 7 100 82 47 226
not specified 0 0 1 6 7
not provided 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 55 77 36 168
Invitae 0 46 6 11 63
OMIM 7 0 0 0 7
PreventionGenetics 0 0 0 6 6
GeneDx 3 0 1 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 3 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 1

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