ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.536G>A (p.Arg179His)

gnomAD frequency: 0.00004  dbSNP: rs766629953
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119453 SCV002395468 likely benign Maple syrup urine disease 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711804 SCV005258721 likely benign not provided criteria provided, single submitter not provided

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