ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.435C>A (p.Cys145Ter)

dbSNP: rs1555978891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000582068 SCV000692187 pathogenic Autosomal recessive agammaglobulinemia 1 2006-02-01 no assertion criteria provided clinical testing

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