ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1086-1_1088dup

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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 RCV004764453 SCV005373875 likely pathogenic Mitochondrial trifunctional protein deficiency 1 2024-09-22 criteria provided, single submitter clinical testing

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