ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1761C>T (p.Val587=) (rs769773789)

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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 RCV000570387 SCV000670194 likely benign Hereditary cancer-predisposing syndrome 2015-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000570387 SCV000685737 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000439669 SCV000522319 likely benign not specified 2018-02-07 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 RCV000225830 SCV000287454 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-10-27 criteria provided, single submitter clinical testing

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