ClinVar Miner

Submissions for variant NM_001918.4(DBT):c.724T>C (p.Ser242Pro) (rs146249007)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079953 SCV000111836 benign not specified 2013-10-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224772 SCV000281138 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079953 SCV000308532 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000079953 SCV000512792 benign not specified 2015-12-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000551526 SCV000627813 benign Maple syrup urine disease 2020-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000551526 SCV000743617 benign Maple syrup urine disease 2016-09-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000551526 SCV001257846 benign Maple syrup urine disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000551526 SCV001472328 benign Maple syrup urine disease 2020-02-28 criteria provided, single submitter clinical testing

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