ClinVar Miner

Variants studied for cherubism

Included ClinVar conditions (1):
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
9 3 342 239 138 700

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SH3BP2 9 3 338 236 135 690
LOC129992073, SH3BP2 0 0 0 1 2 3
ADD1, ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, IDUA, LETM1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 0 0 2 0 0 2
LOC129992072, SH3BP2 0 0 0 1 1 2
FAM193A, HAUS3, MXD4, NAT8L, POLN, RNF4, SH3BP2, TNIP2, ZFYVE28 0 0 1 0 0 1
LOC129992074, SH3BP2 0 0 1 0 0 1
RIT1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 290 216 42 554
Illumina Laboratory Services, Illumina 0 0 48 22 113 183
Fulgent Genetics, Fulgent Genetics 0 1 5 4 0 10
OMIM 7 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 2 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 1

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