ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.37+8C>T

dbSNP: rs1554569655
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615842 SCV000729238 likely benign not specified 2017-03-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000636710 SCV000758150 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000636710 SCV002045999 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing

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