ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.885+11G>A

gnomAD frequency: 0.00071  dbSNP: rs117081789
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160907 SCV000211604 benign not specified 2014-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000411955 SCV000488655 benign Nijmegen breakage syndrome-like disorder 2016-05-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000160907 SCV002069723 benign not specified 2020-01-10 criteria provided, single submitter clinical testing
Invitae RCV002053937 SCV002484841 benign Hereditary cancer-predisposing syndrome 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315966 SCV004017243 benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing

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