Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000077896 | SCV000109725 | benign | not specified | 2013-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000185685 | SCV000238606 | benign | not provided | 2018-01-04 | 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, |
RCV000004035 | SCV000376683 | benign | Deficiency of butyryl-CoA dehydrogenase | 2018-03-06 | 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. |
Genomic Research Center, |
RCV000077896 | SCV000746501 | benign | not specified | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000004035 | SCV000756747 | benign | Deficiency of butyryl-CoA dehydrogenase | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000004035 | SCV001138838 | likely benign | Deficiency of butyryl-CoA dehydrogenase | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000004035 | SCV001156791 | benign | Deficiency of butyryl-CoA dehydrogenase | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000185685 | SCV002010900 | benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000185685 | SCV003917249 | benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000077896 | SCV004813183 | likely benign | not specified | 2024-02-09 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000185685 | SCV005218928 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Ambry Genetics | RCV004965259 | SCV005521996 | likely benign | Inborn genetic diseases | 2024-08-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
OMIM | RCV000004035 | SCV000024201 | pathogenic | Deficiency of butyryl-CoA dehydrogenase | 2001-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000004035 | SCV000188414 | not provided | Deficiency of butyryl-CoA dehydrogenase | no assertion provided | literature only | ||
Genome |
RCV000004035 | SCV000606903 | not provided | Deficiency of butyryl-CoA dehydrogenase | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Genome |
RCV000185685 | SCV001749956 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 08-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |