ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) (rs104894936)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790835 SCV000227392 pathogenic not provided 2013-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000012400 SCV000894503 pathogenic Allan-Herndon-Dudley syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000790835 SCV001245774 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
OMIM RCV000012400 SCV000032634 pathogenic Allan-Herndon-Dudley syndrome 2017-06-15 no assertion criteria provided literature only

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