ClinVar Miner

Submissions for variant NM_000523.4(HOXD13):c.217G>A (p.Gly73Ser)

gnomAD frequency: 0.00002  dbSNP: rs544449825
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
Baylor Genetics RCV001336918 SCV001530449 uncertain significance Brachydactyly-syndactyly syndrome 2018-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546800 SCV003672949 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.217G>A (p.G73S) alteration is located in exon 1 (coding exon 1) of the HOXD13 gene. This alteration results from a G to A substitution at nucleotide position 217, causing the glycine (G) at amino acid position 73 to be replaced by a serine (S). 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.