ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1668-10T>G

dbSNP: rs1284168796
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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 RCV001404895 SCV001606804 likely benign CHARGE syndrome 2020-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499864 SCV002805338 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-05-10 criteria provided, single submitter clinical testing

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