ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.975G>A (p.Pro325=)

gnomAD frequency: 0.00067  dbSNP: rs145014649
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180566 SCV000233033 uncertain significance not provided 2015-05-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335902 SCV000459346 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000180566 SCV000892704 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000180566 SCV001608872 likely benign not provided 2025-01-20 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.