ClinVar Miner

Submissions for variant NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)

dbSNP: rs1553565140
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000190340 SCV001528442 pathogenic Barber-Say syndrome 2018-08-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. The c.223G>C (p.E75Q) variant in the TWIST2 gene is the recurrent pathogenic variant causing Barber-Say syndrome [PMID 26119818, 27092433, 28680619].
OMIM RCV000190340 SCV000243872 pathogenic Barber-Say syndrome 2015-07-02 no assertion criteria provided literature only

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.