ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)

dbSNP: rs776577038
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 RCV003071437 SCV003453370 benign Adams-Oliver syndrome 5 2024-12-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005233071 SCV005879932 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing The NOTCH1 c.6430G>A; p.Gly2144Ser variant (rs776577038), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 2145423). This variant is found in the general population with an overall allele frequency of 0.002% (4/240,768 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.235). Due to limited information, the clinical significance of this variant is uncertain at this time.

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.