ClinVar Miner

Variants in gene CDC73

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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
119 28 673 708 67 10 1514

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Parathyroid carcinoma 89 17 542 575 40 6 1258
Hereditary cancer-predisposing syndrome 20 4 250 243 10 0 523
Hyperparathyroidism 1 5 2 101 18 3 0 129
Hyperparathyroidism 2 with jaw tumors 8 2 77 11 24 0 120
not provided 20 3 20 23 20 1 86
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 3 0 25 14 1 0 43
not specified 0 0 4 16 13 3 34
CDC73-related condition 1 0 2 11 0 0 14
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
Hyperparathyroidism 0 0 0 1 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 0 1 0 1
Parathyroid adenoma, somatic 1 0 0 0 0 0 1
Parathyroid gland adenoma 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 83 15 470 573 21 0 1162
Ambry Genetics 21 4 246 241 8 0 520
Illumina Laboratory Services, Illumina 0 0 82 24 22 0 105
GeneDx 15 2 17 23 19 0 76
Fulgent Genetics, Fulgent Genetics 3 0 25 14 1 0 43
Baylor Genetics 1 1 23 0 0 0 25
PreventionGenetics, part of Exact Sciences 1 0 2 11 3 0 17
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 10 5 0 16
OMIM 15 0 0 0 0 0 15
Sema4, Sema4 0 0 7 3 2 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 2 0 6 0 10
CeGaT Center for Human Genetics Tuebingen 1 0 0 5 1 0 7
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 4 0 7
GeneReviews 0 0 0 0 0 6 6
Genetic Services Laboratory, University of Chicago 2 0 1 1 1 0 5
Eurofins Ntd Llc (ga) 1 0 2 0 1 0 4
ITMI 0 0 0 0 0 3 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Clinical Genetics and Genomics, 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
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Human Genetics Unit, University Of Colombo 0 1 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
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 1 0 0 0 0 1

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