ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2070+7A>G

gnomAD frequency: 0.00001  dbSNP: rs757339440
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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 RCV000536171 SCV000634272 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001712769 SCV001941247 benign not provided 2015-04-16 criteria provided, single submitter clinical testing

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