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
43 7 122 91 13 3 268

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Parathyroid carcinoma 22 5 118 86 10 0 235
Hyperparathyroidism 2 7 0 44 31 1 0 83
Isolated Hyperparathyroidism 0 0 44 30 1 0 75
not provided 12 1 4 1 4 0 22
not specified 0 0 0 9 4 3 15
Hyperparathyroidism 1 3 1 0 0 0 0 4
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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 4 74 58 3 0 154
Illumina Clinical Services Laboratory,Illumina 0 0 44 30 1 0 75
GeneDx 11 0 2 9 0 0 22
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
PreventionGenetics 0 0 0 0 3 0 3
ITMI 0 0 0 0 0 3 3
Department of Oral Pathology,Peking University School and Hospital of Stomatology 2 0 0 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 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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