List of variants reported as uncertain significance for Lynch syndrome by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)	rs201671325	0.00072
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	rs63751049	0.00037
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)	rs3136334	0.00033
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	rs17420802	0.00025
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)	rs63750114	0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)	rs201343342	0.00016
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	rs201118107	0.00014
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)	rs530993704	0.00008
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)	rs63751612	0.00006
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)	rs587779930	0.00003
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)	rs146359682	0.00002
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)	rs139598980	0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)	rs587782621	0.00001
NM_000251.3(MSH2):c.212-3A>T	rs879255341	0.00001
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)	rs587779328	0.00001
NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)	rs184131049

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.