ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1383G>A (p.Pro461=) (rs886063169)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566911 SCV000670208 likely benign Hereditary cancer-predisposing syndrome 2016-01-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000566911 SCV000909504 likely benign Hereditary cancer-predisposing syndrome 2018-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000431381 SCV000527917 likely benign not specified 2016-05-17 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.
Illumina Clinical Services Laboratory,Illumina RCV000357753 SCV000475293 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000357753 SCV000562955 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-12-21 criteria provided, single submitter clinical testing

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