ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.105T>A (p.Ile35=)

dbSNP: rs78870221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712310 SCV000535307 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29338689, 30287823)
Invitae RCV000476795 SCV000562942 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571363 SCV000662733 likely benign Hereditary cancer-predisposing syndrome 2016-11-08 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. RCV000476795 SCV001461784 likely benign Microcephaly, normal intelligence and immunodeficiency 2020-09-16 no assertion criteria provided clinical testing

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