ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1467G>A (p.Arg489=) (rs56257041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000732826 SCV000283113 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228175 SCV000394414 uncertain significance Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562540 SCV000672946 likely benign Hereditary cancer-predisposing syndrome 2017-04-18 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 RCV000732826 SCV000860817 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing

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