ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.585-15T>C

gnomAD frequency: 0.00001  dbSNP: rs746465355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440102 SCV000533989 likely benign not specified 2016-11-14 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 RCV002063574 SCV002400400 likely benign Microcephaly, normal intelligence and immunodeficiency 2022-12-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002063574 SCV005919753 likely benign Microcephaly, normal intelligence and immunodeficiency 2020-10-08 criteria provided, single submitter clinical testing

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