ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.542+15G>A

gnomAD frequency: 0.00025  dbSNP: rs587599565
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213260 SCV000270970 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing c.542+15G>A in intron 3 of TSPEAR: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence, an d it is not predicted to impact splicing. It has it has been identified in 0.12 % (9/7686) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs587599565).
GeneDx RCV000509308 SCV001983169 likely benign not provided 2021-04-11 criteria provided, single submitter clinical testing
Invitae RCV000509308 SCV003030508 likely benign not provided 2022-10-21 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509308 SCV000606917 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.