ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1419A>G (p.Gln473=)

gnomAD frequency: 0.00003  dbSNP: rs587780535
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080026 SCV000153850 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163038 SCV000213528 likely benign Hereditary cancer-predisposing syndrome 2014-09-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000679452 SCV000715576 likely benign not provided 2019-06-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679452 SCV000806412 likely benign not provided 2017-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000599807 SCV001363745 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163038 SCV002536599 likely benign Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter curation

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