ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.444+3A>G (rs587783411)

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
Genetic Services Laboratory, University of Chicago RCV000145581 SCV000192676 uncertain significance Primary autosomal recessive microcephaly 6 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364611 SCV000383539 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272381 SCV000383540 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765129 SCV000896353 uncertain significance Primary autosomal recessive microcephaly 6; Seckel syndrome 4 2018-10-31 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.