ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.746+1G>A

dbSNP: rs2083906060
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253462 SCV001429176 likely pathogenic Agammaglobulinemia 4, autosomal recessive 2017-01-01 criteria provided, single submitter clinical testing

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