ClinVar Miner

Variants in gene RAD50

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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
166 54 987 459 32 13 1634

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 163 43 974 318 13 0 1491
not provided 9 3 33 267 24 13 332
Nijmegen breakage syndrome-like disorder 6 8 37 15 12 0 76
not specified 0 0 10 12 12 0 29
Familial cancer of breast 0 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Ovarian Neoplasms 0 1 0 0 0 0 1
Premature ovarian insufficiency 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 125 31 713 284 10 0 1163
Invitae 105 22 628 315 22 0 1091
GeneDx 7 1 30 1 8 0 47
Counsyl 2 6 9 12 10 0 39
Fulgent Genetics,Fulgent Genetics 2 0 28 0 0 0 30
Integrated Genetics/Laboratory Corporation of America 0 1 4 9 13 0 27
GeneKor MSA 6 0 17 1 0 0 24
Harris Lab, University of Minnesota 0 0 0 0 0 13 13
Genetic Services Laboratory, University of Chicago 1 0 6 3 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 4 1 0 0 7
Mendelics 0 0 1 3 1 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 1 0 0 3
Vantari Genetics 0 0 2 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
OMIM 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 1 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 1 0 0 0 0 1

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