ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.252G>T (p.Trp84Cys)

gnomAD frequency: 0.00003  dbSNP: rs200638406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001255379 SCV001431775 pathogenic Maple syrup urine disease 2020-06-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV004570647 SCV005059347 likely pathogenic Maple syrup urine disease type 1A 2024-02-13 criteria provided, single submitter clinical testing

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