ClinVar Miner

Submissions for variant NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)

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
Ambry Genetics RCV004233443 SCV003739809 uncertain significance not specified 2022-12-28 criteria provided, single submitter clinical testing The c.2404G>A (p.A802T) alteration is located in exon 19 (coding exon 19) of the KIF23 gene. This alteration results from a G to A substitution at nucleotide position 2404, causing the alanine (A) at amino acid position 802 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485834 SCV004235905 uncertain significance Congenital dyserythropoietic anemia, type III 2023-02-28 criteria provided, single submitter clinical testing

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.