ClinVar Miner

Submissions for variant NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) (rs1800549)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085624 SCV000172536 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176915 SCV000228692 benign not specified 2014-06-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294305 SCV000359327 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346856 SCV000359328 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408392 SCV000359329 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307168 SCV000359330 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Retina International RCV000085624 SCV000117763 not provided not provided no assertion provided not provided

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.