ClinVar Miner

Submissions for variant NM_001112704.2(VAX1):c.678C>T (p.Ala226=)

gnomAD frequency: 0.00104  dbSNP: rs534482978
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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 RCV000877872 SCV001020677 likely benign Microphthalmia, syndromic 11 2024-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930453 SCV004744593 likely benign VAX1-related disorder 2023-12-14 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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