ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.896+4T>C (rs190843577)

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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 RCV000216736 SCV000275525 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000216736 SCV000903038 likely benign Hereditary cancer-predisposing syndrome 2015-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000444040 SCV000513859 likely benign not specified 2015-11-30 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 RCV000533968 SCV000634338 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-10-30 criteria provided, single submitter clinical testing

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