ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.795A>G (p.Ala265=) (rs1126565)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078559 SCV000110415 benign not specified 2012-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000078559 SCV000170961 benign not specified 2011-07-06 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.
Ambry Genetics RCV000715236 SCV000846064 benign History of neurodevelopmental disorder 2015-07-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166390 SCV001328765 benign Pyruvate dehydrogenase E1-alpha deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000078559 SCV000152171 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 RCV000676882 SCV000802696 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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