ClinVar Miner

Submissions for variant NM_001918.4(DBT):c.1150= (p.Gly384=) (rs12021720)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-08-25 criteria provided, single submitter clinical testing
Invitae RCV001000210 SCV001733022 benign Maple syrup urine disease 2020-11-26 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.

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