ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.980G>A (p.Arg327His) (rs28903091)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115966 SCV000053551 benign Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000656959 SCV000149875 benign not provided 2019-05-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29928469, 16385572, 27153395, 20805886, 31159747)
Genetic Services Laboratory, University of Chicago RCV000193234 SCV000248652 uncertain significance not specified 2014-12-07 criteria provided, single submitter clinical testing
Invitae RCV000115966 SCV000252806 benign Hereditary cancer-predisposing syndrome 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000409977 SCV000488748 uncertain significance Nijmegen breakage syndrome-like disorder 2016-07-05 criteria provided, single submitter clinical testing
GeneKor MSA RCV000115966 SCV000821804 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000115966 SCV001251949 benign Hereditary cancer-predisposing syndrome 2020-05-03 criteria provided, single submitter clinical testing

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