ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.544C>T (p.Pro182Ser)

gnomAD frequency: 0.00010  dbSNP: rs143080077
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 RCV002533717 SCV000833702 likely benign Blau syndrome; Regional enteritis 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026669 SCV004990140 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.625C>T (p.P209S) alteration is located in exon 3 (coding exon 3) of the NOD2 gene. This alteration results from a C to T substitution at nucleotide position 625, causing the proline (P) at amino acid position 209 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.