ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.397_398del (p.Cys133fs) (rs398123682)

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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 RCV000790807 SCV000230189 pathogenic not provided 2012-08-22 criteria provided, single submitter clinical testing
Counsyl RCV000178176 SCV000486580 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-06-27 criteria provided, single submitter clinical testing

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