ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.532C>T (p.Arg178Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004792327 SCV005414363 uncertain significance Maple syrup urine disease type 2 2019-09-19 criteria provided, single submitter clinical testing

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