ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)

gnomAD frequency: 0.00035  dbSNP: rs140094033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400972 SCV001602783 likely benign CHARGE syndrome 2023-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001587397 SCV001814318 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499848 SCV002805103 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953723 SCV004784788 likely benign SEMA3E-related disorder 2021-07-01 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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