ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963

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.