ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) (rs181341030)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194266 SCV000246366 uncertain significance not specified 2014-06-13 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490396 SCV000267210 uncertain significance Mitochondrial complex I deficiency 2016-03-18 criteria provided, single submitter reference population
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194266 SCV000856408 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765838 SCV000897233 uncertain significance Bile acid synthesis defect, congenital, 4; Alpha-methylacyl-CoA racemase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000894738 SCV001038741 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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