ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) (rs2229137)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715720 SCV000846551 benign History of neurodevelopmental disorder 2015-06-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224670 SCV000280888 benign not provided 2016-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127400 SCV000701595 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000127400 SCV000170963 benign not specified 2013-12-27 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.
OMIM RCV000011632 SCV000031864 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2017-08-15 no assertion criteria provided literature only

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