ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1374A>G (p.Val458=)

gnomAD frequency: 0.00001  dbSNP: rs201110281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859573 SCV000253441 likely benign not provided 2015-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000195713 SCV000669639 likely benign Hereditary cancer-predisposing syndrome 2015-11-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001446967 SCV001650022 likely benign Ataxia-telangiectasia-like disorder 2015-10-30 criteria provided, single submitter clinical testing

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