ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) (rs1178331074)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000500337 SCV000598131 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2015-02-24 criteria provided, single submitter clinical testing This heterozygous variant in the DYNC2H1 gene (autosomal recessive transmission), inherited from the mother, was present in a foetus who also harbours a second variant in the same gene inherited by the father (compound heterozygosity).
Dan Cohn Lab,University Of California Los Angeles RCV000515832 SCV000611942 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research

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.