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
131 33 814 806 71 10 1760

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 99 18 590 646 41 6 1389
Hereditary cancer-predisposing syndrome 24 4 377 315 13 0 729
Hyperparathyroidism 1 7 2 115 18 3 0 145
Hyperparathyroidism 2 with jaw tumors 8 2 77 11 25 0 121
not provided 20 3 41 28 22 1 112
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 5 4 63 15 1 0 88
not specified 0 0 5 21 14 3 41
CDC73-related disorder 1 1 4 13 0 0 19
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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 93 17 518 644 22 0 1294
Ambry Genetics 25 4 373 313 11 0 726
Illumina Laboratory Services, Illumina 0 0 82 24 22 0 105
GeneDx 15 2 37 23 19 0 96
Fulgent Genetics, Fulgent Genetics 5 3 63 15 1 0 87
Baylor Genetics 3 1 38 0 0 0 42
PreventionGenetics, part of Exact Sciences 1 1 4 13 3 0 22
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 14 6 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 13 0 20
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 1 6 0 11
CeGaT Center for Human Genetics Tuebingen 1 0 0 8 1 0 10
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
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 0 1 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 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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