ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.1404_1405del (p.Gly469fs)

dbSNP: rs2144180003
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647166 SCV001519154 pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-01-04 criteria provided, single submitter research

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.