ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) (rs10404506)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079248 SCV000111118 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000079248 SCV000238731 benign not specified 2014-09-04 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.
PreventionGenetics,PreventionGenetics RCV000079248 SCV000305439 likely benign not specified 2012-05-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372754 SCV000413350 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 RCV000755844 SCV000883447 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV000372754 SCV001013026 benign Maple syrup urine disease 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275913 SCV001461592 benign Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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