ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)

dbSNP: rs375211355
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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 RCV002173787 SCV002421073 likely benign CHARGE syndrome 2022-02-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494330 SCV002795148 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706364 SCV005220928 likely benign not provided criteria provided, single submitter not provided

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