ClinVar Miner

Variants in gene CDC73

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Minimum submission review status: Collection method:
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 not provided total
146 37 934 882 71 32 1981

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Parathyroid carcinoma 112 18 628 687 41 6 1482
Hereditary cancer-predisposing syndrome 31 9 522 378 13 0 948
Hyperparathyroidism 1 7 3 116 18 3 0 147
not provided 22 3 48 35 22 1 126
Hyperparathyroidism 2 with jaw tumors 10 2 74 11 25 0 119
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 5 5 63 15 1 1 89
not specified 0 0 5 25 14 3 45
CDC73-related disorder 1 1 4 13 0 0 19
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Familial cancer of breast 1 0 0 0 0 2 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Ossifying fibroma of the jaw 2 0 0 0 0 0 2
Ovarian cancer 0 0 0 0 1 1 2
Sarcoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Cystic parathyroid adenoma 1 0 0 0 0 0 1
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hyperparathyroidism 0 0 0 1 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 1 0 1 0 0 0 0 1
Neoplasm of the endocrine system 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Parathyroid adenoma, somatic 1 0 0 0 0 0 1
Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 0 0 0 0 1 0 1
Parathyroid gland adenoma 1 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 107 17 562 687 22 0 1395
Ambry Genetics 32 9 517 376 11 0 945
GeneDx 15 2 43 24 19 0 103
Illumina Laboratory Services, Illumina 0 0 76 22 22 0 97
Fulgent Genetics, Fulgent Genetics 5 3 63 15 1 0 87
Baylor Genetics 3 1 38 0 0 0 42
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 2 17 6 0 26
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 23 23
PreventionGenetics, part of Exact Sciences 1 1 4 13 3 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 13 0 20
CeGaT Center for Human Genetics Tuebingen 2 0 0 13 1 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 2 6 0 12
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 5 0 8
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 1 0 3
ITMI 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mendelics 1 0 1 0 0 0 2
Molecular Pathology, Peter Maccallum Cancer Centre 1 0 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
3billion 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1

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