ClinVar Miner

Variants in gene CACNA1D

See also:
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
10 21 1318 1172 164 41 2608

Condition and significance breakdown #

Total conditions: 40
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 8 1186 1143 151 2 2426
not specified 0 0 86 84 35 0 195
Inborn genetic diseases 1 1 184 8 0 0 194
CACNA1D-related disorder 0 0 27 37 3 1 68
Aldosterone-producing adenoma with seizures and neurological abnormalities 3 4 36 3 22 0 67
Sinoatrial node dysfunction and deafness 2 5 13 5 11 0 34
Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with seizures and neurological abnormalities 0 2 16 5 1 1 25
Intellectual disability 0 0 2 6 0 0 8
Nonpapillary renal cell carcinoma 0 0 0 0 0 8 8
Familial cancer of breast 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Hearing impairment 0 1 3 0 0 0 4
Melanoma 0 0 0 0 0 4 4
See cases 0 2 2 0 0 0 4
Malignant tumor of esophagus 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Papillary renal cell carcinoma type 1 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
Cholangiocarcinoma 0 0 0 0 0 2 2
Congenital anomaly of kidney and urinary tract 0 0 1 1 0 0 2
Lung cancer 0 0 0 0 0 2 2
Meniere disease 0 0 2 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Autism spectrum disorder 0 0 0 1 0 0 1
Autosomal recessive Alport syndrome 0 0 1 0 0 0 1
CACNA1D-related neurodevelopmental and endocrine disorders 0 0 1 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 1 0 0 0 0 0 1
Congenital long QT syndrome 0 0 1 0 0 0 1
Dystonia, early-onset, and/or spastic paraplegia 0 0 0 1 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Long QT syndrome 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Pheochromocytoma/paraganglioma syndrome 1 0 0 0 0 0 1 1
Skeletal dysplasia 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1
VATER association 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 80
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 978 1013 51 0 2044
GeneDx 4 4 278 158 119 0 563
Ambry Genetics 1 1 184 8 0 0 194
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 33 36 24 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 47 38 1 0 86
PreventionGenetics, part of Exact Sciences 0 0 27 37 3 0 67
Breakthrough Genomics, Breakthrough Genomics 0 0 4 23 38 0 65
CeGaT Center for Human Genetics Tuebingen 0 0 11 27 2 0 40
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 12 13 0 39
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 38 38
Genetic Services Laboratory, University of Chicago 0 0 11 13 7 0 31
Clinical Genetics, Academic Medical Center 0 0 5 3 18 0 26
Revvity Omics, Revvity 0 0 24 1 0 0 25
Fulgent Genetics, Fulgent Genetics 0 0 14 5 1 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 14 2 0 18
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 14 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 5 3 0 13
Athena Diagnostics 1 0 4 0 7 0 12
Eurofins Ntd Llc (ga) 0 0 10 0 1 0 11
Genome-Nilou Lab 0 0 0 0 11 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 1 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 6 0 0 7
New York Genome Center 0 0 7 0 0 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 2 1 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 3 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 5 1 0 0 6
Mendelics 0 1 2 2 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 3 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 1 0 0 0 3
OMIM 3 0 0 0 0 0 3
Richard Lifton Laboratory, Yale University School of Medicine 0 3 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
3billion 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Endocrinology, Osmania Medical College 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.