ClinVar Miner

Submissions for variant NM_016098.4(MPC1):c.290G>A (p.Arg97Gln)

gnomAD frequency: 0.00001  dbSNP: rs1779135449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology, Beijing Children's Hospital, Capital Medical University RCV001843376 SCV001842676 likely pathogenic Mitochondrial pyruvate carrier deficiency 2021-09-02 criteria provided, single submitter clinical testing

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