ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.431C>T (p.Thr144Ile) (rs1554567906)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570614 SCV000674029 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764788 SCV000895932 uncertain significance Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2018-10-31 criteria provided, single submitter clinical testing

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