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
58 8 241 149 33 3 455

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Parathyroid carcinoma 37 6 220 88 29 0 375
Hyperparathyroidism 2 6 0 75 9 22 0 112
Hyperparathyroidism 1 3 1 76 18 3 0 101
not provided 13 1 7 38 6 0 63
Hereditary cancer-predisposing syndrome 1 0 13 16 1 0 31
not specified 0 0 0 9 4 3 15
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
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 4 146 118 5 0 302
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 4 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 2 0 1 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 0 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
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
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 1

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