ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4774-17_4774-16del

dbSNP: rs55860151
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249840 SCV000303763 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331033 SCV000359296 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364584 SCV000359297 benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272427 SCV000359298 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324962 SCV000359299 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001518238 SCV000730630 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518238 SCV001726896 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549167 SCV001769269 benign Severe early-childhood-onset retinal dystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549168 SCV001769270 benign Retinitis pigmentosa 19 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549169 SCV001769271 benign Cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549170 SCV001769272 benign Age related macular degeneration 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001518238 SCV001881251 benign not provided 2015-03-03 flagged submission 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.