ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1914+20T>G

gnomAD frequency: 0.00001  dbSNP: rs1459013677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191728 SCV001359627 likely benign Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560127 SCV002967788 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-03-08 criteria provided, single submitter clinical testing

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