ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2699T>A (p.Met900Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV004586455 SCV005077806 likely pathogenic Pyruvate carboxylase deficiency 2024-05-09 criteria provided, single submitter clinical testing

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