ClinVar Miner

Variants in gene TMEM67 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
Download table as spreadsheet
HGVS dbSNP
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507

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.