ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740

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.