ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) (rs2278008)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302812 SCV000457124 benign Alpha-methylacyl-CoA racemase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368392 SCV000484135 benign Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116324 SCV000517523 benign not specified 2016-01-05 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.
Genetic Services Laboratory, University of Chicago RCV000116324 SCV000150245 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 RCV000676064 SCV000801798 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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