ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.1161A>G (p.Val387=) (rs1061337)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077878 SCV000109707 benign not specified 2015-09-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077878 SCV000301493 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327270 SCV000358944 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077878 SCV000600031 benign not specified 2017-07-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000327270 SCV000884946 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-07-31 criteria provided, single submitter clinical testing
Natera Inc RCV000327270 SCV001190616 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-05-20 no assertion criteria provided clinical testing

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