ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.149G>C (p.Arg50Pro) (rs2229311)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169289 SCV000220605 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-08-19 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000169289 SCV000893369 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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