ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.939G>A (p.Ala313=)

gnomAD frequency: 0.00025  dbSNP: rs145750430
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083723 SCV000166527 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000212728 SCV000170637 benign not specified 2014-04-29 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 RCV000127084 SCV000213949 likely benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000127084 SCV000685839 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679469 SCV000806454 likely benign not provided 2018-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212728 SCV000919844 benign not specified 2019-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000212728 SCV002070566 likely benign not specified 2018-05-23 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000127084 SCV002536729 likely benign Hereditary cancer-predisposing syndrome 2021-01-27 criteria provided, single submitter curation

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