ClinVar Miner

Submissions for variant NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) (rs1557041672)

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 RCV000680077 SCV000807517 pathogenic Renpenning syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory maternally inherited in a 9-month-old male with developmental delay, dysmorphisms, microcephaly, failure to thrive, genital anomalies
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656312 SCV000778285 pathogenic not provided 2017-10-27 no assertion criteria provided 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.