ClinVar Miner

Variants in gene CASR

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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 risk factor not provided total
85 57 503 220 47 1 1 2 842

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 14 13 278 129 19 0 0 0 453
not provided 31 23 75 44 13 0 0 1 181
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 7 4 111 14 0 0 0 0 136
Inborn genetic diseases 3 1 42 40 10 0 0 0 96
Hypocalciuric hypercalcemia, familial, type 1 22 2 46 10 13 0 0 1 92
Hypocalcemia, autosomal dominant 1 21 1 40 9 11 0 0 0 82
Neonatal severe hyperparathyroidism 11 0 39 8 15 0 0 0 73
Familial isolated hypoparathyroidism 0 1 28 9 26 0 0 0 64
not specified 0 0 23 14 15 0 0 0 49
Familial hypocalciuric hypercalcemia 1 19 0 5 2 0 0 0 27
Hypocalcemia, autosomal dominant 1, with bartter syndrome 4 0 0 0 0 0 0 0 4
Hypocalcemia 0 0 0 2 1 0 0 0 3
Epilepsy, idiopathic generalized 8 0 0 0 0 0 0 1 0 1
Global developmental delay; Seizures; Brachycephaly; Generalized hypotonia; Chorea 0 0 1 0 0 0 0 0 1
Hypocalciuric hypercalcemia, familial, type 1; Neonatal severe hyperparathyroidism; Epilepsy, idiopathic generalized 8; Hypocalcemia, autosomal dominant 1 0 0 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 0 1
Parathyroid adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria 0 1 0 0 0 0 0 0 1
Serum calcium level 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 22 17 389 185 19 0 0 0 632
Ambry Genetics 3 1 42 40 10 0 0 0 96
Athena Diagnostics Inc 11 9 35 0 15 0 0 0 70
GeneDx 22 12 22 5 5 0 0 0 66
Illumina Clinical Services Laboratory,Illumina 0 0 39 14 26 0 0 0 62
OMIM 50 0 0 0 0 1 1 0 52
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 18 2 11 0 0 0 32
Integrated Genetics/Laboratory Corporation of America 1 20 4 4 1 0 0 0 30
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 15 0 0 0 0 0 15
PreventionGenetics,PreventionGenetics 0 0 0 7 6 0 0 0 13
Mendelics 0 2 2 1 3 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 4 0 0 0 0 0 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 2 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 0 0 4 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 2 0 0 0 0 0 3
Gharavi Laboratory,Columbia University 0 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Baylor Genetics 0 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 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 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 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 0 1

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