ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.7403C>T (p.Pro2468Leu)

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
Revvity Omics, Revvity RCV003138631 SCV003820025 uncertain significance Radio-Tartaglia syndrome 2022-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004673849 SCV005172107 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.7403C>T (p.P2468L) alteration is located in exon 11 (coding exon 11) of the SPEN gene. This alteration results from a C to T substitution at nucleotide position 7403, causing the proline (P) at amino acid position 2468 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.