ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.4554C>T (p.His1518=)

gnomAD frequency: 0.00176  dbSNP: rs145068849
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 RCV000891804 SCV001035641 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891804 SCV001746301 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing LAMA1: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV002505280 SCV002802467 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-02-14 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.