ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.666C>T (p.Phe222=)

gnomAD frequency: 0.00001  dbSNP: rs876661098
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220946 SCV000279522 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001273693 SCV001607510 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273693 SCV002045954 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183517 SCV002666388 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509326 SCV002819576 likely benign not specified 2022-12-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273693 SCV001457049 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-03-10 no assertion criteria provided clinical testing

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