ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.279G>A (p.Ser93=)

gnomAD frequency: 0.00011  dbSNP: rs587780781
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123215 SCV000166520 benign Microcephaly, normal intelligence and immunodeficiency 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165927 SCV000216682 likely benign Hereditary cancer-predisposing syndrome 2014-09-30 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 RCV000604024 SCV000728952 benign not specified 2015-05-08 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.
Sema4, Sema4 RCV000165927 SCV002536659 likely benign Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000604024 SCV002766193 likely benign not specified 2022-11-05 criteria provided, single submitter clinical testing

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