ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile)

gnomAD frequency: 0.00026  dbSNP: rs148225763
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000972090 SCV001119784 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334419 SCV001527264 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2018-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004553494 SCV004779079 likely benign LAMA1-related disorder 2022-03-10 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.