ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp)

dbSNP: rs1602210996
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000821066 SCV000961807 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649351 SCV005141692 uncertain significance not specified 2024-06-07 criteria provided, single submitter clinical testing The c.3638G>A (p.G1213D) alteration is located in exon 3 (coding exon 2) of the KIAA2022 gene. This alteration results from a G to A substitution at nucleotide position 3638, causing the glycine (G) at amino acid position 1213 to be replaced by an aspartic acid (D). 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.