ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.204C>T (p.His68=) (rs28903084)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163569 SCV000214128 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000163569 SCV000289027 likely benign Hereditary cancer-predisposing syndrome 2020-12-02 criteria provided, single submitter clinical testing
Counsyl RCV000663116 SCV000786245 likely benign Nijmegen breakage syndrome-like disorder 2018-03-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858291 SCV001154516 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing

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