ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.483A>C (p.Ile161=) (rs7874056)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116490 SCV000308008 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369919 SCV000480872 likely benign 3-Methylglutaconic aciduria type 1 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116490 SCV000150423 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 RCV000676895 SCV000802710 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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