ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.996-6G>A

gnomAD frequency: 0.02713  dbSNP: rs74586298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079274 SCV000111144 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394948 SCV000413356 benign Maple syrup urine disease 2018-01-12 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.
GeneDx RCV000079274 SCV000512253 benign not specified 2016-01-08 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 RCV000394948 SCV000627805 benign Maple syrup urine disease 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275920 SCV001461599 benign Maple syrup urine disease type 1A 2020-09-16 no assertion criteria provided clinical testing

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