ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.690C>G (p.Asn230Lys)

dbSNP: rs1800113439
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
Dept Of Ophthalmology, Nagoya University RCV003888300 SCV004707333 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Leiden Open Variation Database RCV001530321 SCV001745098 uncertain significance not provided 2019-07-24 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

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.