ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.498G>A (p.Pro166=)

gnomAD frequency: 0.00001  dbSNP: rs753061100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204779 SCV000260759 likely benign not provided 2017-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563219 SCV000666403 likely benign Hereditary cancer-predisposing syndrome 2016-08-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001407725 SCV001609704 likely benign Ataxia-telangiectasia-like disorder 2021-08-10 criteria provided, single submitter clinical testing

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