ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2234+16C>T

dbSNP: rs1563497498
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
PreventionGenetics, part of Exact Sciences RCV000679460 SCV000806431 likely benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060850 SCV002356173 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-02-19 criteria provided, single submitter clinical testing

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