ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.38-11del

dbSNP: rs752004731
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002068164 SCV002492627 benign Microcephaly, normal intelligence and immunodeficiency 2024-08-31 criteria provided, single submitter clinical testing
GeneDx RCV003223702 SCV003919414 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32277576)

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