ClinVar Miner

Submissions for variant NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)

gnomAD frequency: 0.00152  dbSNP: rs199632752
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244250 SCV002512668 uncertain significance Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 2021-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting
Breakthrough Genomics, Breakthrough Genomics RCV004691492 SCV005186672 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916406 SCV004732319 likely benign HPDL-related disorder 2022-04-28 no assertion criteria provided 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).

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.