ClinVar Miner

Submissions for variant NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) (rs138436961)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000593824 SCV000641759 benign not provided 2019-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593824 SCV000700657 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
GeneReviews RCV000203412 SCV000258537 pathogenic Methylmalonyl-CoA epimerase deficiency 2016-01-07 no assertion criteria provided literature only

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