ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=)

gnomAD frequency: 0.00001  dbSNP: rs1435041618
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470095 SCV001674186 likely benign CHARGE syndrome 2023-04-14 criteria provided, single submitter clinical testing

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