ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.1096-17del

dbSNP: rs201454460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115165 SCV002397783 benign Agammaglobulinemia 4, autosomal recessive 2023-11-19 criteria provided, single submitter clinical testing

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