Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127418 | SCV000170981 | benign | not specified | 2014-01-13 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000224806 | SCV000281156 | likely benign | not provided | 2015-08-19 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Eurofins Ntd Llc |
RCV000127418 | SCV000341052 | benign | not specified | 2016-05-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001000245 | SCV000371629 | benign | Pyruvate dehydrogenase E3-binding protein deficiency | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Labcorp Genetics |
RCV000224806 | SCV001111728 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988526 | SCV001138274 | likely benign | Pyruvate dehydrogenase E1-alpha deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224806 | SCV001148229 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | PDHX: BS2 |
ARUP Laboratories, |
RCV001000245 | SCV001156796 | benign | Pyruvate dehydrogenase E3-binding protein deficiency | 2023-09-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925258 | SCV004738415 | likely benign | PDHX-related disorder | 2019-03-19 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |