ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1631+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796504 SCV005416252 uncertain significance X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP4

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