ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1182A>G (p.Arg394=)

dbSNP: rs1586059412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931300 SCV001076965 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336933 SCV002637816 likely benign Hereditary cancer-predisposing syndrome 2021-05-02 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.
Natera, Inc. RCV000931300 SCV002078594 likely benign Microcephaly, normal intelligence and immunodeficiency 2020-03-23 no assertion criteria provided clinical testing

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