ClinVar Miner

Submissions for variant NM_024721.5(ZFHX4):c.490G>A (p.Ala164Thr)

gnomAD frequency: 0.00140  dbSNP: rs147642461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964183 SCV001111372 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964183 SCV004155948 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ZFHX4: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000964183 SCV005221666 likely benign not provided criteria provided, single submitter not provided

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.