ClinVar Miner

Submissions for variant NC_000002.12:g.(?_227616600)_(227744395_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV001194694 SCV001142664 pathogenic Biotin-responsive basal ganglia disease 2020-01-07 no assertion criteria provided clinical testing

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