ClinVar Miner

Variants in gene SMARCB1 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg) rs763994045
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072

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.