ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3041A>G (p.His1014Arg) (rs145022945)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563912 SCV000672898 likely benign Hereditary cancer-predisposing syndrome 2017-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Other data supporting benign classification
GeneKor MSA RCV000563912 SCV000821794 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000228961 SCV000283130 benign Bloom syndrome 2018-01-10 criteria provided, single submitter clinical testing
Mendelics RCV000228961 SCV000838980 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing

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