ClinVar Miner

Submissions for variant NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)

dbSNP: rs2143647637
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
OMIM RCV003329399 SCV002587072 pathogenic Amelogenesis imperfecta, IIa 1K 2022-10-27 no assertion criteria provided literature only
Dental Genetics Laboratory, Seoul National University School of Dentistry RCV001579315 SCV001481807 pathogenic Amelogenesis imperfecta no assertion criteria provided research

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.