ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.994+233G>A

gnomAD frequency: 0.32471  dbSNP: rs6990969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532831 SCV001748579 benign Microcephaly, normal intelligence and immunodeficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001655816 SCV001865371 benign not provided 2018-06-24 criteria provided, single submitter clinical testing

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