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
126 42 767 325 29 13 1239

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 123 34 753 308 21 0 1210
Nijmegen breakage syndrome-like disorder 6 7 36 12 11 0 71
not provided 9 1 31 3 6 13 61
not specified 0 0 12 10 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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 20 519 194 19 0 836
Ambry Genetics 81 23 502 210 10 0 826
GeneDx 7 1 30 1 8 0 47
Counsyl 2 6 9 12 10 0 39
Fulgent Genetics 2 0 28 0 0 0 30
Integrated Genetics/Laboratory Corporation of America 0 1 6 7 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
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
CeGaT Praxis fuer Humangenetik Tuebingen 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 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
Molecular Development Laboratory,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
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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