ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.872A>G (p.Gln291Arg) (rs587778547)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583974 SCV000690744 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-28 criteria provided, single submitter clinical testing
Counsyl RCV000666592 SCV000790906 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-04-13 criteria provided, single submitter clinical testing
ITMI RCV000121623 SCV000085821 not provided not specified 2013-09-19 no assertion provided reference population

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