ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.765A>C (p.Ala255=)

gnomAD frequency: 0.00001  dbSNP: rs143878781
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866442 SCV001007534 likely benign CHARGE syndrome 2023-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495261 SCV002795637 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-12-22 criteria provided, single submitter clinical testing

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