ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.244A>G (p.Lys82Glu) (rs193921030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667547 SCV000792018 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-06-05 criteria provided, single submitter clinical testing
Science for Life laboratory, Karolinska Institutet RCV000149134 SCV000088776 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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