ClinVar Miner

Variants in gene DCHS1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
35 11 1657 940 120 27 2622

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 8 1445 896 115 0 2394
Inborn genetic diseases 0 0 496 37 2 0 535
DCHS1-related disorder 0 0 27 67 9 2 105
not specified 0 0 29 20 27 0 76
Van Maldergem syndrome 1 7 3 39 10 6 0 64
Mitral valve prolapse, myxomatous 2 3 1 14 0 0 0 17
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 0 0 11 1 0 0 12
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Congenital heart disease 0 0 7 0 0 0 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
Lymphedema 0 0 4 0 0 0 4
Sarcoma 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
DCHS1-related congenital anomalies of the kidney and urinary tract 0 0 2 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Cardiomyopathy 0 0 1 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
DCHS1-Related Disorders 1 0 0 0 0 0 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Myoepithelial tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 24 3 1318 816 101 0 2262
Ambry Genetics 0 0 496 37 2 0 535
GeneDx 1 1 175 58 50 0 285
CeGaT Center for Human Genetics Tuebingen 0 0 37 90 5 0 132
PreventionGenetics, part of Exact Sciences 0 0 28 67 16 0 111
Breakthrough Genomics, Breakthrough Genomics 0 0 3 34 45 0 82
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 26 18 0 0 45
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 6 19 14 0 40
Clinical Genetics, Academic Medical Center 0 0 0 6 26 0 32
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 29 0 0 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 25 25
Revvity Omics, Revvity 0 1 17 1 0 0 19
Baylor Genetics 1 0 15 0 0 0 16
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 12 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 10 0 0 0 11
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 4 4 1 0 9
Fulgent Genetics, Fulgent Genetics 0 0 7 1 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 6 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 0 0 0 6
Eurofins Ntd Llc (ga) 0 0 6 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
3billion 0 0 0 5 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 3 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
OMIM 5 0 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 1 3 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 3 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 1 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Mendelics 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Precision Medicine Center, Jinhua Municipal Central Hospital 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1

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