ClinVar Miner

Variants in gene combination RAD50, TH2-LCR, TH2LCRR

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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
18 14 174 77 4 2 279

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 18 13 172 77 4 0 277
not provided 1 1 2 9 0 2 15
not specified 0 0 3 2 1 0 6
Nijmegen breakage syndrome-like disorder 0 1 1 0 0 0 2
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 12 142 69 1 0 239
Ambry Genetics 10 5 103 34 2 0 154
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 2 1 0 6
GeneDx 0 0 2 0 1 0 3
Harris Lab, University of Minnesota 0 0 0 0 0 2 2
Counsyl 0 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
GeneKor MSA 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 1 0 0 0 1

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