ClinVar Miner

Submissions for variant NM_000743.5(CHRNA3):c.275A>G (p.Asn92Ser)

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 RCV004973804 SCV005555438 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.275A>G (p.N92S) alteration is located in exon 4 (coding exon 4) of the CHRNA3 gene. This alteration results from a A to G substitution at nucleotide position 275, causing the asparagine (N) at amino acid position 92 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006617 SCV005635281 uncertain significance Urinary bladder, atony of; SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 2024-05-14 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.