ClinVar Miner

Submissions for variant NM_006459.4(ERLIN1):c.369C>T (p.His123=)

gnomAD frequency: 0.00224  dbSNP: rs150796906
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875131 SCV001017414 benign Hereditary spastic paraplegia 62 2024-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718781 SCV005320751 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004718781 SCV005893102 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing ERLIN1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003967917 SCV004782958 benign ERLIN1-related disorder 2019-11-04 no assertion criteria provided clinical testing This variant is classified as 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.