ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.300C>T (p.Ser100=)

dbSNP: rs115303391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541740 SCV000650067 benign Agammaglobulinemia 2, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000541740 SCV001159057 benign Agammaglobulinemia 2, autosomal recessive 2023-09-21 criteria provided, single submitter clinical testing

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