ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.760-15C>A

gnomAD frequency: 0.22904  dbSNP: rs7058209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078558 SCV000110414 benign not specified 2012-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000078558 SCV000170960 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.
Illumina Laboratory Services, Illumina RCV001166389 SCV001328763 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.
Invitae RCV001166389 SCV001719126 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-02-01 criteria provided, single submitter clinical testing

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