ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1194A>G (p.Gln398=)

dbSNP: rs200046373
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422717 SCV000527879 likely benign not specified 2016-05-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422717 SCV000697938 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV000636755 SCV000758196 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000636755 SCV002045932 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581041 SCV002646617 likely benign Hereditary cancer-predisposing syndrome 2015-11-18 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. RCV000636755 SCV001457040 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-01-24 no assertion criteria provided clinical testing

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