ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.507C>T (p.Ser169=)

gnomAD frequency: 0.02030  dbSNP: rs74519217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537497 SCV000650069 benign Agammaglobulinemia 2, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000537497 SCV001474592 benign Agammaglobulinemia 2, autosomal recessive 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001662577 SCV001874344 benign not provided 2021-06-09 criteria provided, single submitter clinical testing

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