ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.551-14A>G

gnomAD frequency: 0.00008  dbSNP: rs373998559
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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 RCV002607202 SCV003507143 likely benign CHARGE syndrome 2022-08-19 criteria provided, single submitter clinical testing

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