ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.861G>C (p.Val287=)

gnomAD frequency: 0.00005  dbSNP: rs75203375
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
Genetic Services Laboratory, University of Chicago RCV000147371 SCV000194748 uncertain significance Microcephaly, seizures, and developmental delay 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000362660 SCV000337421 uncertain significance not provided 2015-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085320 SCV001006991 benign Developmental and epileptic encephalopathy, 12 2024-01-16 criteria provided, single submitter clinical testing

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.