ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.594C>T (p.His198=)

gnomAD frequency: 0.00038  dbSNP: rs1064418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884813 SCV001028215 likely benign Agammaglobulinemia 2, autosomal recessive 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222165 SCV003916353 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing IGLL1: BP4, BP7

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