ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)

gnomAD frequency: 0.00056  dbSNP: rs186628513
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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 RCV000634443 SCV000755750 benign CHARGE syndrome 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001766353 SCV002008787 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483791 SCV002801925 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-08-10 criteria provided, single submitter clinical testing

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