ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.415A>G (p.Thr139Ala) (rs543852763)

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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 RCV000165497 SCV000216228 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000859129 SCV000219155 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000221936 SCV000279946 likely benign not specified 2018-02-20 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.
Counsyl RCV000168457 SCV000799505 likely benign Microcephaly, normal intelligence and immunodeficiency 2018-04-23 criteria provided, single submitter clinical testing
Color RCV000165497 SCV000902920 likely benign Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing

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