ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1366+11G>A

gnomAD frequency: 0.00009  dbSNP: rs369202554
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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 RCV002078206 SCV002376925 likely benign CHARGE syndrome 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498283 SCV002806685 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-11-17 criteria provided, single submitter clinical testing

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