ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6858+10G>A (rs767166725)

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
Invitae RCV000198810 SCV000253225 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221143 SCV000272221 uncertain significance not specified 2015-12-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.6921+10G>A in NF1 has not been previously reported in individuals with a RASopathy. It has be en identified in 3/66498 European chromosomes and 1/8646 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs767166725). Computational tools DO NOT suggest an impact to splicing. Howeve r, this information is not predictive enough to rule out pathogenicity. In summa ry, while the clinical significance of the c.6921+10G>A variant is uncertain, th ese data suggest that it is more likely to be benign.

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.