ClinVar Miner

Variants in gene CASR

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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 association not provided total
259 204 1781 1110 62 1 9 3103

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 172 41 1257 782 29 0 0 2281
Nephrolithiasis/nephrocalcinosis 19 12 628 778 16 0 0 1453
not provided 62 76 208 30 27 0 1 373
not specified 0 0 169 50 27 0 0 235
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 16 15 140 27 0 0 0 198
Familial hypocalciuric hypercalcemia 1 34 32 64 10 17 0 1 152
Autosomal dominant hypocalcemia 1 28 11 51 9 15 0 0 111
Neonatal severe primary hyperparathyroidism 19 6 44 6 18 0 0 92
CASR-related disorder 11 13 25 29 0 0 0 78
Familial hypocalciuric hypercalcemia 33 40 1 3 1 0 0 78
Familial hypoparathyroidism 2 1 27 7 25 0 0 62
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia 0 11 11 0 0 0 0 22
Hereditary cancer-predisposing syndrome 0 0 3 9 2 0 0 14
Autosomal dominant hypocalcemia 7 3 0 0 0 0 0 10
Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1 0 1 6 0 0 0 0 7
Epilepsy, idiopathic generalized, susceptibility to, 8 1 1 3 0 0 0 0 5
Hypercalcemia 0 0 4 1 0 0 0 5
Bartter syndrome with hypocalcemia 4 0 0 0 0 0 0 4
Neonatal severe primary hyperparathyroidism; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Bartter syndrome with hypocalcemia 0 0 0 0 0 0 4 4
Inborn genetic diseases 1 1 1 0 0 0 0 3
See cases 0 0 2 0 0 0 0 2
Bartter disease type 3; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Autosomal dominant hypocalcemia 1 0 0 0 0 0 0 1 1
CASR-related calcium metabolism disorders 1 0 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism 0 0 1 0 0 0 0 1
Familial hypokalemia-hypomagnesemia; Bartter syndrome 0 0 1 0 0 0 0 1
Hypercalcaemia, hypocalciuric 0 0 1 0 0 0 0 1
Hypocalcemia 1 0 0 0 0 0 0 1
Idiopathic generalized epilepsy 0 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Malignant tumor of breast 0 0 0 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 0 1
Parathyroid gland adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria 0 1 0 0 0 0 0 1
Primary hyperparathyroidism 0 1 0 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 0 1
Serum calcium level 0 0 0 0 0 1 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 172 41 1260 783 29 0 0 2285
Ambry Genetics 20 13 629 778 16 0 0 1456
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 48 44 126 26 11 0 0 255
Fulgent Genetics, Fulgent Genetics 16 14 139 27 0 0 0 196
GeneDx 27 19 80 8 14 0 0 148
Athena Diagnostics 24 20 72 1 19 0 0 136
PreventionGenetics, part of Exact Sciences 9 13 24 36 6 0 0 88
Mayo Clinic Laboratories, Mayo Clinic 11 19 26 9 6 0 0 71
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 9 8 30 18 4 0 0 69
Illumina Laboratory Services, Illumina 1 1 39 12 25 0 0 61
OMIM 51 0 0 0 0 1 0 52
Eurofins Ntd Llc (ga) 1 0 18 2 11 0 0 32
CeGaT Center for Human Genetics Tuebingen 5 4 8 12 1 0 0 30
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 11 11 0 0 0 0 24
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 15 0 0 21
Revvity Omics, Revvity 4 2 13 0 0 0 0 19
Genetic Services Laboratory, University of Chicago 2 6 5 3 0 0 0 16
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 15 0 0 0 0 15
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 6 7 1 0 0 0 0 14
Sema4, Sema4 0 0 3 9 2 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 5 5 0 0 0 0 14
Mendelics 2 2 4 1 3 0 0 12
Clinical Genetics Laboratory, Skane University Hospital Lund 1 6 4 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 2 4 4 1 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 3 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 5 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 4 0 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 6 0 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 1 3 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 2 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 4 0 0 6
Institute of Human Genetics, Cologne University 1 0 5 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 1 2 3 0 0 0 0 6
3billion 2 0 3 0 0 0 0 5
Clinical Genetics and Genomics, Karolinska University Hospital 1 4 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Baylor Genetics 2 0 2 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 1 0 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 0 4
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 1 3 0 0 0 0 4
Center for Bone Health, The Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 2 1 0 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 0 3 0 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 2 0 0 0 0 2
Dasa 1 1 0 0 0 0 0 2
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 2 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 0 2
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 2 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 0 1
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 0 1 0 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital 0 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Hormonlaboratory, Oslo University Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Laboratorio de Genética, Hospital Universitario Reina Sofía 0 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1

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