ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)

gnomAD frequency: 0.00008  dbSNP: rs766680673
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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 RCV002149749 SCV002412199 likely benign CHARGE syndrome 2024-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508037 SCV002808894 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747047 SCV005348267 likely benign SEMA3E-related disorder 2023-02-24 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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