ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.962del (p.Asn321fs)

dbSNP: rs1586075907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004532 SCV001163581 likely pathogenic Microcephaly, normal intelligence and immunodeficiency criteria provided, single submitter clinical testing
Baylor Genetics RCV003467574 SCV004199619 likely pathogenic Aplastic anemia 2023-07-27 criteria provided, single submitter clinical testing

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