ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1920T>C (p.Tyr640=)

gnomAD frequency: 0.00001  dbSNP: rs1299953525
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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 RCV000574661 SCV000662138 likely benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000865424 SCV001006385 likely benign not provided 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV001448707 SCV001651806 likely benign Ataxia-telangiectasia-like disorder 2021-08-31 criteria provided, single submitter clinical testing

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