ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.883A>T (p.Met295Leu) (rs1595786853)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Metabolic Diseases,Hacettepe University RCV000984025 SCV000924550 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2019-05-01 no assertion criteria provided clinical testing Detected as the only mutation in IVD gene in a single individual clinically and biochemically diagnosed with Isovaleric Acidemia.

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