ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.184-17_184-16del (rs111778723)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177028 SCV000228840 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000177028 SCV000239102 benign not specified 2014-04-04 criteria provided, single submitter clinical testing The variant is found in UCD-MET panel(s).
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236484 SCV000256858 benign Propionyl-CoA carboxylase deficiency 2011-01-01 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000177028 SCV000303455 benign not specified 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000177028 SCV000569590 benign not specified 2016-11-10 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.

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