ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.670+12G>A

gnomAD frequency: 0.00001  dbSNP: rs1383072223
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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 RCV001505377 SCV001710277 likely benign CHARGE syndrome 2020-10-13 criteria provided, single submitter clinical testing

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