ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)

gnomAD frequency: 0.02743  dbSNP: rs2229465
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283420 SCV000353622 benign Junctional epidermolysis bullosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001522714 SCV001732307 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537667 SCV001754596 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537668 SCV001754597 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537669 SCV001754598 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001522714 SCV001912241 benign not provided 2015-03-03 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.