ClinVar Miner

Submissions for variant NM_001378328.1(CELSR1):c.8863G>A (p.Ala2955Thr)

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 RCV004433422 SCV004925056 uncertain significance not specified 2024-02-13 criteria provided, single submitter clinical testing The c.8863G>A (p.A2955T) alteration is located in exon 34 (coding exon 34) of the CELSR1 gene. This alteration results from a G to A substitution at nucleotide position 8863, causing the alanine (A) at amino acid position 2955 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023530 SCV005663881 uncertain significance Lymphatic malformation 9 2024-04-16 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.