ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Breda Genetics srl and "likely pathogenic" from any submitter

Minimum review status of the submission from Breda Genetics srl: Collection method of the submission from Breda Genetics srl:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_022445.4(TPK1):c.664G>C (p.Asp222His) rs368458768
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773

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.