ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely pathogenic" from Genetic Services Laboratory, University of Chicago

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 gnomAD frequency
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_015836.4(WARS2):c.938A>T (p.Lys313Met) rs145867327 0.00035
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113

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.