Variants with conflicting interpretations "benign" from International Society for Gastrointestinal Hereditary Tumours (InSiGHT) and "likely benign" from any submitter

Minimum review status of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT):		Collection method of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT):
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000179.2(MSH6):c.-159C>T	rs41540312	0.07535
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	rs2020873	0.02345
NM_000249.4(MLH1):c.474C>T (p.Asn158=)	rs4647256	0.01161
NM_000249.4(MLH1):c.1039-8T>A	rs193922367	0.01153
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)	rs55859129	0.01118
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	rs1805318	0.01006
NM_000251.3(MSH2):c.339G>A (p.Lys113=)	rs35898375	0.00313
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)	rs3211299	0.00158
NM_000251.3(MSH2):c.1387-8G>T	rs187525243	0.00143
NM_000251.3(MSH2):c.499G>C (p.Asp167His)	rs63750255	0.00006
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	rs3136351
NM_000249.4(MLH1):c.*32CTT[1]	rs193922366

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.