ClinVar Miner

Variants in gene CSRP3

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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 not provided total
34 26 298 140 33 5 475

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 27 12 198 98 10 0 342
Cardiovascular phenotype 4 3 109 45 3 0 164
not provided 1 4 77 24 22 0 123
not specified 0 0 30 29 14 4 68
Hypertrophic cardiomyopathy 12 4 6 38 3 3 1 51
Cardiomyopathy 1 5 24 9 4 0 43
Hypertrophic cardiomyopathy 0 1 17 4 0 0 20
CSRP3-related disorder 0 0 5 4 1 0 10
Primary dilated cardiomyopathy 2 4 1 0 1 0 8
Primary familial hypertrophic cardiomyopathy 0 1 7 0 0 0 8
Dilated Cardiomyopathy, Dominant 0 0 5 1 0 0 6
Hypertrophic cardiomyopathy 1 0 0 4 0 0 0 4
Dilated cardiomyopathy 1M 1 0 1 0 0 0 2
Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 1 0 0 1
Prolonged QT interval 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 27 11 189 97 10 0 334
Ambry Genetics 4 3 104 45 3 0 159
GeneDx 1 2 54 31 26 0 114
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 1 3 23 9 4 0 40
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 23 6 5 4 38
Illumina Laboratory Services, Illumina 0 1 30 4 3 0 38
Fulgent Genetics, Fulgent Genetics 0 0 33 1 1 0 35
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 16 4 4 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 5 7 4 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 3 7 8 0 18
Clinical Genetics, Academic Medical Center 0 0 8 1 7 0 16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 7 4 4 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 5 5 0 13
PreventionGenetics, part of Exact Sciences 0 0 5 4 4 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 7 4 1 0 13
AiLife Diagnostics, AiLife Diagnostics 0 1 11 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 5 1 4 0 11
Blueprint Genetics 0 0 10 0 1 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 4 1 5 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 6 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 6 1 0 0 7
OMIM 5 0 1 0 0 0 6
Cytogenetics- Mohapatra Lab, Banaras Hindu University 2 4 0 0 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 1 0 0 3
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 0 0 3 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 1 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 1 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1

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