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
14 12 113 44 4 2 185

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 14 11 112 44 4 0 182
not provided 1 0 2 0 0 2 5
not specified 0 0 2 0 1 0 3
Nijmegen breakage syndrome-like disorder 0 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 9 87 29 1 0 136
Ambry Genetics 9 4 72 27 2 0 114
GeneDx 0 0 2 0 1 0 3
Integrated Genetics/Laboratory Corporation of America 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
GeneKor MSA 0 0 1 0 0 0 1

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