ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)

gnomAD frequency: 0.87100  dbSNP: rs12021720
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000116865 SCV000202597 benign not specified 2015-08-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000210 SCV001156718 benign Maple syrup urine disease 2022-10-25 criteria provided, single submitter clinical testing
Invitae RCV001000210 SCV001733022 benign Maple syrup urine disease 2022-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001000210 SCV001876538 benign Maple syrup urine disease 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001675620 SCV001895110 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29306928, 14517957, 26232051, 27884173, 9621512, 20981092)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000116865 SCV002051448 benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001000210 SCV002799063 likely benign Maple syrup urine disease 2021-07-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116865 SCV000150939 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116865 SCV001743361 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000116865 SCV001923217 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116865 SCV001931478 benign not specified no assertion criteria provided clinical testing

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