ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.629G>T (p.Gly210Val)

gnomAD frequency: 0.00344  dbSNP: rs150902999
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153495 SCV000203013 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153495 SCV000314782 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393840 SCV000368011 uncertain significance Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878012 SCV001020849 likely benign Isolated microphthalmia 5 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532669 SCV001748335 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing C1QTNF5: BS2; MFRP: BP4, BS2

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.