ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3879A>G (p.Glu1293=) (rs28377085)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562616 SCV000672909 likely benign Hereditary cancer-predisposing syndrome 2017-02-28 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 RCV000732825 SCV000860816 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000562616 SCV000821905 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227610 SCV000394429 uncertain significance Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227610 SCV000283144 benign Bloom syndrome 2018-01-04 criteria provided, single submitter clinical testing

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