ClinVar Miner

Submissions for variant NM_002148.4(HOXD10):c.341G>T (p.Cys114Phe)

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 RCV003135616 SCV003808756 uncertain significance Congenital vertical talus 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004245999 SCV004884265 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.341G>T (p.C114F) alteration is located in exon 1 (coding exon 1) of the HOXD10 gene. This alteration results from a G to T substitution at nucleotide position 341, causing the cysteine (C) at amino acid position 114 to be replaced by a phenylalanine (F). 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.