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

gnomAD frequency: 0.22904  dbSNP: rs7058209

Total submissions: 5

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001166389	SCV001719126	benign	Pyruvate dehydrogenase E1-alpha deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713192	SCV005274429	benign	not provided		criteria provided, single submitter	not provided