ClinVar Miner

Submissions for variant NM_000344.4(SMN1):c.*3+3A>T

dbSNP: rs1749776954
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001194661 SCV001250824 likely pathogenic Werdnig-Hoffmann disease criteria provided, single submitter clinical testing

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