ClinVar Miner

Submissions for variant NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) (rs387906501)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000012407 SCV000248896 likely pathogenic Allan-Herndon-Dudley syndrome 2015-01-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091604 SCV001247738 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
OMIM RCV000012407 SCV000032641 pathogenic Allan-Herndon-Dudley syndrome 2008-05-01 no assertion criteria provided literature only

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