ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1209+1G>A

dbSNP: rs1661795778
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001255380 SCV001431777 pathogenic Maple syrup urine disease 2020-06-02 criteria provided, single submitter clinical testing

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