ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.999-10T>C

gnomAD frequency: 0.00001  dbSNP: rs371994521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940288 SCV002188998 likely benign CHARGE syndrome 2024-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503607 SCV002783539 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-04-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892184 SCV004714816 likely benign SEMA3E-related disorder 2021-08-10 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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