ClinVar Miner

Variants in gene CDC73

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
72 11 329 193 34 3 604

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Parathyroid carcinoma 51 9 310 151 29 0 545
Hyperparathyroidism 2 6 0 75 9 22 0 112
Hyperparathyroidism 1 4 1 76 18 3 0 102
not provided 15 1 6 39 6 0 65
Hereditary cancer-predisposing syndrome 1 0 13 16 1 0 31
not specified 0 0 0 9 5 3 16
Isolated Hyperparathyroidism 0 0 6 2 0 0 8
Ossifying fibroma of the jaw 2 0 0 0 0 0 2
Cystic parathyroid adenoma 1 0 0 0 0 0 1
Familial cancer of breast 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Parathyroid adenoma 1 0 0 0 0 0 1
Parathyroid adenoma, somatic 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 43 7 237 162 5 0 454
Illumina Clinical Services Laboratory,Illumina 0 0 82 24 22 0 105
Ambry Genetics 2 0 13 16 1 0 32
GeneDx 11 0 2 13 2 0 28
OMIM 15 0 0 0 0 0 15
GeneReviews 2 0 0 0 6 0 8
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 5 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 2 0 1 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 1 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 3
ITMI 0 0 0 0 0 3 3
Mendelics 1 1 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 0 0 0 0 0 2
Department of Oral Pathology,Peking University School and Hospital of Stomatology 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 1

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