ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile)

gnomAD frequency: 0.00014  dbSNP: rs190791287
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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 RCV000866410 SCV001007499 likely benign CHARGE syndrome 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918380 SCV004736170 likely benign SEMA3E-related disorder 2019-05-20 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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