ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.362-17T>C

gnomAD frequency: 0.00879  dbSNP: rs118063042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001816 SCV001159485 benign Agammaglobulinemia 4, autosomal recessive 2020-06-28 criteria provided, single submitter clinical testing
Invitae RCV001001816 SCV001724165 benign Agammaglobulinemia 4, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing

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