ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1002C>T (p.Ser334=)

dbSNP: rs115244417
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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 RCV000574911 SCV000666425 likely benign Hereditary cancer-predisposing syndrome 2016-08-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000887485 SCV001031041 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Invitae RCV001458220 SCV001662037 likely benign Ataxia-telangiectasia-like disorder 2018-12-16 criteria provided, single submitter clinical testing

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