ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) (rs10941112)

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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 RCV000333635 SCV000457130 benign Alpha-methylacyl-CoA racemase deficiency 2018-03-06 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 RCV000116321 SCV000517522 benign not specified 2016-01-06 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116321 SCV000855812 benign not specified 2017-07-18 criteria provided, single submitter clinical testing
Mendelics RCV000333635 SCV001136815 benign Alpha-methylacyl-CoA racemase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116321 SCV000150242 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 RCV000676068 SCV000801803 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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