ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.480A>G (p.Glu160=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002979790 SCV003297099 likely benign Maple syrup urine disease 2022-01-13 criteria provided, single submitter clinical testing

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