ClinVar Miner

Submissions for variant NC_000006.11:g.(?_5172693)_(5459957_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV003388184 SCV003920762 pathogenic Combined oxidative phosphorylation defect type 14 2023-04-27 criteria provided, single submitter research

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