ClinVar Miner

Variants in gene combination RAD50, 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 total
4 2 53 15 4 73

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 3 2 52 15 3 71
Nijmegen breakage syndrome-like disorder 1 0 3 1 1 6
not provided 0 0 2 0 2 4
not specified 0 0 0 0 2 2
Familial cancer of breast 0 0 0 1 0 1
Premature ovarian insufficiency 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 2 40 9 3 54
Ambry Genetics 2 0 31 10 1 44
GeneDx 0 0 2 0 2 4
Counsyl 0 0 1 1 1 3
GeneKor MSA 1 0 2 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 2 2
OMIM 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Molecular Development Laboratory,Murdoch Childrens Research Institute 0 0 1 0 0 1

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