ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.315G>A (p.Arg105=)

gnomAD frequency: 0.00160  dbSNP: rs144176765
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892682 SCV001036575 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505286 SCV002801557 likely benign Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 2021-10-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000892682 SCV005876106 likely benign not provided 2024-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892682 SCV005909823 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing TCF3: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000892682 SCV001931875 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000892682 SCV001974019 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003910623 SCV004720969 likely benign TCF3-related disorder 2019-12-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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