ClinVar Miner

Variants in gene LAMB1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=) rs113725211 0.00487
NM_002291.3(LAMB1):c.1370-18C>T rs79590733 0.00436
NM_002291.3(LAMB1):c.4221C>T (p.Ser1407=) rs35082294 0.00416
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) rs145746791 0.00371
NM_002291.3(LAMB1):c.468T>C (p.Phe156=) rs149792171 0.00272
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu) rs34150332 0.00242
NM_002291.3(LAMB1):c.1590A>C (p.Ser530=) rs139481973 0.00175
NM_002291.3(LAMB1):c.1189+11A>G rs111256901 0.00145
NM_002291.3(LAMB1):c.855A>G (p.Gly285=) rs140773514 0.00091
NM_002291.3(LAMB1):c.4176C>T (p.Ala1392=) rs143385719 0.00082
NM_002291.3(LAMB1):c.3594C>T (p.His1198=) rs566055806 0.00081
NM_002291.3(LAMB1):c.1483-14G>A rs115559402 0.00073
NM_002291.3(LAMB1):c.891C>T (p.His297=) rs146380871 0.00070
NM_002291.3(LAMB1):c.1593C>T (p.Cys531=) rs150514010 0.00060
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722 0.00043
NM_002291.3(LAMB1):c.1370-13T>G rs199712943 0.00041
NM_002291.3(LAMB1):c.1985+11C>G rs192349543
NM_002291.3(LAMB1):c.5225-22AT[8] rs113854298

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.