ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)

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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 RCV003499111 SCV004269315 likely benign CHARGE syndrome 2022-12-03 criteria provided, single submitter clinical testing

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