ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1107T>C (p.Tyr369=)

gnomAD frequency: 0.00001  dbSNP: rs781643712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000229732 SCV000276862 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000859239 SCV000288929 likely benign not provided 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV001505337 SCV001710235 likely benign Ataxia-telangiectasia-like disorder 2016-02-28 criteria provided, single submitter clinical testing

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