ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)

gnomAD frequency: 0.00002  dbSNP: rs574901886
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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 RCV001523186 SCV001732857 benign CHARGE syndrome 2021-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501186 SCV002808815 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432787 SCV004162403 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SEMA3E: BP4, BP7

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