ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1104-2646A>G

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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 RCV003990020 SCV004806221 likely benign Mitochondrial DNA depletion syndrome 13 2024-03-25 criteria provided, single submitter clinical testing

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