ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)

dbSNP: rs122455132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV000224792 SCV000281740 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing present in the affected brother
OMIM RCV000012402 SCV000032636 pathogenic Allan-Herndon-Dudley syndrome 2017-06-15 no assertion criteria provided literature only

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