ClinVar Miner

Variants with conflicting interpretations "likely benign" from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941

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.