ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.717G>T (p.Gln239His) (rs34677)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306332 SCV000457127 likely benign Alpha-methylacyl-CoA racemase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116323 SCV000517699 benign not specified 2016-01-21 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.
SIB Swiss Institute of Bioinformatics RCV000116323 SCV000803560 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116323 SCV000861294 benign not specified 2018-05-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116323 SCV000150244 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676065 SCV000801800 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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