ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) (rs730882140)

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
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University RCV000161909 SCV001251032 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 5 2020-03-31 criteria provided, single submitter research
OMIM RCV000161909 SCV000211939 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 5 2014-11-04 no assertion criteria provided literature only
GeneReviews RCV000192266 SCV000239914 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192266 SCV000928439 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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.