Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370523609
rs370523609
A 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017

dbSNP: rs370523609
rs370523609
A 0.700 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016

dbSNP: rs370523609
rs370523609
A 0.700 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887

2015

dbSNP: rs370523609
rs370523609
A 0.700 GeneticVariation CLINVAR Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 22630369

2012

dbSNP: rs370523609
rs370523609
A 0.700 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010