ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.438G>A (p.Thr146=)

gnomAD frequency: 0.00011  dbSNP: rs377678203
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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 RCV000884333 SCV001027704 likely benign Agammaglobulinemia 2, autosomal recessive 2024-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704265 SCV005209063 likely benign not provided criteria provided, single submitter not provided

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