ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.784+1G>A (rs763471771)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179846 SCV000232161 pathogenic not provided 2014-07-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762946 SCV000893370 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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