ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.785-1G>A (rs1555404784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673634 SCV000798861 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-03-27 criteria provided, single submitter clinical testing
OMIM RCV000673634 SCV000023912 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2000-02-01 no assertion criteria provided literature only

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