ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.999-9A>G

gnomAD frequency: 0.00001  dbSNP: rs776954864
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000916149 SCV001061382 likely benign CHARGE association 2023-05-31 criteria provided, single submitter clinical testing

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