ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.258C>T (p.Val86=)

gnomAD frequency: 0.00061  dbSNP: rs200660869
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000283168 SCV000481964 benign Adrenoleukodystrophy 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.
Invitae RCV000283168 SCV000630003 benign Adrenoleukodystrophy 2021-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585583 SCV000693369 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718532 SCV000849396 likely benign History of neurodevelopmental disorder 2016-09-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001193 SCV001158351 benign not specified 2019-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000585583 SCV001788352 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000283168 SCV002045681 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000585583 SCV002035930 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000585583 SCV002038410 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000283168 SCV002084596 likely benign Adrenoleukodystrophy 2020-01-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.