ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)

dbSNP: rs1064793877
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480881 SCV000567248 pathogenic not provided 2023-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32003821, 11748843, 8993616, 27535533)
Johns Hopkins Genomics, Johns Hopkins University RCV000853230 SCV000996046 pathogenic Adrenoleukodystrophy 2019-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000853230 SCV002045848 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter 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.