ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1141-44C>T

gnomAD frequency: 0.77690  dbSNP: rs2076296
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
PreventionGenetics, part of Exact Sciences RCV000251411 SCV000310347 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000831351 SCV000973093 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001660252 SCV001875717 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660255 SCV001875718 benign Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660254 SCV001875719 benign Lethal acantholytic epidermolysis bullosa 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660251 SCV001875720 benign Keratosis palmoplantaris striata 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660253 SCV001875721 benign Woolly hair-skin fragility syndrome 2021-07-30 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.