ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.457-2A>G

dbSNP: rs771914739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169016 SCV000220158 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2014-03-14 criteria provided, single submitter literature only
Baylor Genetics RCV000169016 SCV004198030 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-05-31 criteria provided, single submitter clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000169016 SCV000853167 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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