ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.999-12T>C

gnomAD frequency: 0.00029  dbSNP: rs373951907
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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 RCV002118544 SCV002449662 likely benign CHARGE syndrome 2023-05-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494398 SCV002803437 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-11-16 criteria provided, single submitter clinical testing

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