ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153640181)_(153641904_?)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 for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154557 SCV000204230 likely pathogenic 3-Methylglutaconic aciduria type 2 2010-01-19 criteria provided, single submitter clinical testing

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