ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.723A>G (p.Ala241=)

gnomAD frequency: 0.00358  dbSNP: rs77379998
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822318 SCV002066469 benign not specified 2021-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077280 SCV002435357 benign not provided 2025-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002077280 SCV004159803 benign not provided 2023-11-01 criteria provided, single submitter clinical testing PHIP: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004536334 SCV004726411 benign PHIP-related disorder 2021-05-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.