ClinVar Miner

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

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Total submissions: 5
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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
Baylor Genetics RCV000169289 SCV001163380 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090731 SCV001246420 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001090731 SCV001251800 likely pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing

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