ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.691del (p.Tyr231fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989883 SCV004805921 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-03-25 criteria provided, single submitter clinical testing

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