ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del)

dbSNP: rs1927166327
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334183 SCV001526961 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2018-07-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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