ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3592G>A (p.Val1198Met) (rs142928725)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563035 SCV000672915 likely benign Hereditary cancer-predisposing syndrome 2016-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
GeneDx RCV000115308 SCV000149217 likely benign not specified 2014-02-12 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.
Invitae RCV000471443 SCV000555815 likely benign Bloom syndrome 2017-12-28 criteria provided, single submitter clinical testing

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