ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2196A>G (p.Gln732=) (rs587780780)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586710 SCV000166517 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000212756 SCV000211433 benign not specified 2014-06-26 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.
Ambry Genetics RCV000160774 SCV000213570 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
Color RCV000160774 SCV000685759 likely benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212756 SCV000697962 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586710 SCV000888335 likely benign not provided 2018-03-07 criteria provided, single submitter clinical testing

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