ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.532del (p.Ala178fs)

dbSNP: rs1555989375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504177 SCV000597071 pathogenic Allan-Herndon-Dudley syndrome 2017-02-22 criteria provided, single submitter clinical testing

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