ClinVar Miner

Variants studied for mitral valve disorder

Included ClinVar conditions (20):
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 association total
9 5 25 1 0 1 41

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign association total
DCHS1 3 0 18 1 0 22
FBN1 3 1 1 0 0 5
BMPR2 0 0 1 0 0 1
COL5A1 0 1 0 0 0 1
DCHS1, LOC130005209 0 0 1 0 0 1
DZIP1 1 0 0 0 0 1
FOXP1 0 0 0 0 1 1
LSM1 0 0 1 0 0 1
MAP2K2 0 0 1 0 0 1
NSDHL 0 0 1 0 0 1
PACS1 1 0 0 0 0 1
PLOD1 1 0 0 0 0 1
RPS6KA3 0 1 0 0 0 1
SLC39A13 0 0 1 0 0 1
TRPS1 0 1 0 0 0 1
TTN 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign association total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 4 4 0 0 12
Baylor Genetics 1 0 9 0 0 10
OMIM 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 1 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 1

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