ClinVar Miner

Variants studied for obsolete inguinal hernia

Included ClinVar conditions (16):
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
10 3 5 0 0 18

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
​intergenic 3 0 2 5
CEMIP2 2 0 0 2
EFEMP1 2 0 0 2
ACTL6A 0 1 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 1
COL5A1 0 1 0 1
ELN 0 0 1 1
FBN1 1 0 0 1
IRAK1 0 0 1 1
LSM1 0 0 1 1
NF1 1 0 0 1
RNF213 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 3 0 2 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 1 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 2 0 0 2
Women's and Children's Health, University of Otago 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 0 1 1

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