ClinVar Miner

Submissions for variant NM_005428.4(VAV1):c.1047G>A (p.Glu349=)

gnomAD frequency: 0.00381  dbSNP: rs61750001
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883839 SCV001027175 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000883839 SCV001159381 benign not provided 2023-09-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000883839 SCV002563492 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing VAV1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000883839 SCV005312488 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000883839 SCV001927911 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000883839 SCV001967739 likely benign not provided no assertion criteria provided clinical testing

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