ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.202A>G (p.Ile68Val)

gnomAD frequency: 0.00001  dbSNP: rs758926864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699253 SCV005205238 uncertain significance not specified 2024-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277687 SCV001464652 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2020-04-16 no assertion criteria provided clinical testing

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