ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.890C>T (p.Ala297Val) (rs796051983)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412245 SCV000486747 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-08-02 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000412245 SCV001424444 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing

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