ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.360del (p.Lys120fs)

dbSNP: rs398123668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178171 SCV000230183 pathogenic not provided 2015-02-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004760370 SCV005374167 pathogenic Maple syrup urine disease type 2 2024-09-22 criteria provided, single submitter clinical testing

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