ClinVar Miner

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

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: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923

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.