ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.256del (p.Arg86fs)

dbSNP: rs797045965
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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 RCV000192994 SCV000248894 pathogenic Allan-Herndon-Dudley syndrome 2013-02-08 criteria provided, single submitter clinical testing

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