ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.465T>C (p.Asp155=) (rs185349681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123840 SCV000167183 benign not specified 2014-01-24 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 RCV000456798 SCV000555816 benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565527 SCV000672881 likely benign Hereditary cancer-predisposing syndrome 2016-08-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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