ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1086T>C (p.Leu362=)

gnomAD frequency: 0.00001  dbSNP: rs786201488
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163740 SCV000214316 likely benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000859537 SCV000253439 likely benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000859537 SCV001144534 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Invitae RCV001502248 SCV001707075 likely benign Ataxia-telangiectasia-like disorder 2021-08-27 criteria provided, single submitter clinical testing

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