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 total
79 42 306 106 35 1 1 528

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 13 6 218 85 15 0 0 337
not provided 29 17 64 1 11 0 0 119
Familial hypocalciuric hypercalcemia 1 19 15 22 13 0 0 69
Neonatal severe hyperparathyroidism 11 0 15 19 12 0 0 57
not specified 0 0 24 14 15 0 0 50
Hypoparathyroidism familial isolated 0 1 16 19 12 0 0 48
Hypocalcemia 0 0 15 19 12 0 0 46
Hypocalciuric hypercalcemia, familial, type 1 21 0 3 0 0 0 0 24
Hypocalcemia, autosomal dominant 1 21 1 1 0 0 0 0 23
Hypocalcemia, autosomal dominant 1, with bartter syndrome 4 0 0 0 0 0 0 4
Inborn genetic diseases 1 1 1 0 0 0 0 3
Epilepsy, idiopathic generalized 8 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Brachycephaly; Generalized hypotonia; Chorea 0 0 1 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 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
Parathyroid adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria 0 1 0 0 0 0 0 1
Serum calcium level 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor total
Invitae 14 6 218 85 15 0 0 338
GeneDx 22 12 22 4 5 0 0 65
OMIM 50 0 0 0 0 1 1 52
Athena Diagnostics Inc 8 3 28 0 13 0 0 52
Illumina Clinical Services Laboratory,Illumina 0 0 15 19 12 0 0 46
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 18 2 11 0 0 32
Integrated Genetics/Laboratory Corporation of America 1 20 4 4 1 0 0 30
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 15 0 0 0 0 15
PreventionGenetics 0 0 0 7 6 0 0 13
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 2 0 0 0 0 4
Ambry Genetics 1 1 1 0 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 0 2 1 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 0 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 0 1
Fulgent Genetics 0 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 1

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