ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.-6_430+5del

dbSNP: rs2147833779
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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 RCV001391665 SCV001593289 pathogenic Allan-Herndon-Dudley syndrome 2021-05-13 criteria provided, single submitter clinical testing

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