ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2185-7T>G

dbSNP: rs1563497932
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
Invitae RCV001428981 SCV001631691 likely benign Microcephaly, normal intelligence and immunodeficiency 2022-04-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001428981 SCV002045882 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing

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