ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.473G>A (p.Arg158Gln)

gnomAD frequency: 0.00012  dbSNP: rs554419240
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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 RCV001347687 SCV001541960 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267798 SCV001424116 uncertain significance Agammaglobulinemia 8, autosomal dominant 2020-05-21 no assertion criteria provided clinical testing

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