ClinVar Miner

Submissions for variant NM_015107.3(PHF8):c.1731-1G>A

gnomAD frequency: 0.00001  dbSNP: rs797044651
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
Eurofins Ntd Llc (ga) RCV000174927 SCV000226329 uncertain significance not provided 2014-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000174927 SCV003923681 likely pathogenic not provided 2023-09-24 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33258288)

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.