ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1443A>G (p.Ala481=) (rs751121403)

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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 RCV000163614 SCV000214181 likely benign Hereditary cancer-predisposing syndrome 2016-10-06 criteria provided, single submitter clinical testing
Color RCV000163614 SCV000690663 likely benign Hereditary cancer-predisposing syndrome 2017-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000422118 SCV000525297 likely benign not specified 2016-03-03 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 RCV000545175 SCV000634227 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-12-18 criteria provided, single submitter clinical testing

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