ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3798T>G (p.Val1266=) (rs138831180)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573700 SCV000672891 likely benign Hereditary cancer-predisposing syndrome 2016-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725494 SCV000337299 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000123851 SCV000167194 benign not specified 2014-01-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000123851 SCV000593639 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000229922 SCV000283142 benign Bloom syndrome 2017-12-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000123851 SCV000301744 likely benign not specified criteria provided, single submitter clinical testing

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