ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1876-8T>C

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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 RCV002862643 SCV003227669 likely benign CHARGE syndrome 2022-05-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747137 SCV005359651 likely benign SEMA3E-related disorder 2024-08-12 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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