ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.784+9C>T

gnomAD frequency: 0.00001  dbSNP: rs1891254953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001277690 SCV004512343 likely benign Isovaleryl-CoA dehydrogenase deficiency 2023-08-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277690 SCV001464655 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2020-04-16 no assertion criteria provided clinical testing

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