ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2143_2144insTGAA (p.Lys715fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051710 SCV005674429 likely pathogenic Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2024-01-26 criteria provided, single submitter clinical testing

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