ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr)

gnomAD frequency: 0.00009  dbSNP: rs752314023
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953960 SCV001100561 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000953960 SCV001802530 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029855 SCV003547868 uncertain significance not specified 2021-04-29 criteria provided, single submitter clinical testing The c.265C>T (p.H89Y) alteration is located in exon 3 (coding exon 2) of the KIAA2022 gene. This alteration results from a C to T substitution at nucleotide position 265, causing the histidine (H) at amino acid position 89 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000953960 SCV005210630 likely benign not provided criteria provided, single submitter not provided

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.