ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.222T>C (p.Tyr74=)

dbSNP: rs1563581193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875675 SCV001018133 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001180440 SCV002726337 likely benign Hereditary cancer-predisposing syndrome 2021-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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