ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.438G>A (p.Pro146=)

gnomAD frequency: 0.00013  dbSNP: rs140523570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000899417 SCV000716526 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000616876 SCV000859888 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156655 SCV001318169 likely benign Alpha-methylacyl-CoA racemase 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001156655 SCV002406667 benign Alpha-methylacyl-CoA racemase deficiency 2022-10-14 criteria provided, single submitter clinical testing

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