ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.-88G>A

gnomAD frequency: 0.03606  dbSNP: rs5955751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001169324 SCV001332013 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.
GeneDx RCV001638047 SCV001848258 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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