ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.427C>G (p.Gln143Glu)

dbSNP: rs200718690
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University RCV001249196 SCV001422446 likely pathogenic Mitochondrial trifunctional protein deficiency 2019-12-01 criteria provided, single submitter clinical testing

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