ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3849G>A (p.Gln1283=) (rs140524886)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000732455 SCV000283143 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574031 SCV000672894 likely benign Hereditary cancer-predisposing syndrome 2016-09-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732455 SCV000860416 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000732455 SCV001149593 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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