ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) (rs1801256)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564629 SCV000672875 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726338 SCV000343878 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000115309 SCV000149218 likely benign not specified 2017-12-22 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 RCV000115309 SCV000593638 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing
Invitae RCV000168286 SCV000218963 benign Bloom syndrome 2017-12-27 criteria provided, single submitter clinical testing
Mendelics RCV000168286 SCV000838986 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000115309 SCV000301743 benign not specified criteria provided, single submitter clinical testing

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