Variants in gene combination POMGNT1, TSPAN1 with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_017739.4(POMGNT1):c.*221G>A	rs181362801	0.00374
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	rs142485035	0.00119
NM_017739.4(POMGNT1):c.*34G>A	rs200540049	0.00076
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)	rs146121135	0.00061
NM_017739.4(POMGNT1):c.421-7C>A	rs189274856	0.00049
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	rs138330966	0.00034
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	rs140724142	0.00033
NM_017739.4(POMGNT1):c.1284+9G>C	rs565797493	0.00026
NM_017739.4(POMGNT1):c.1786-6C>T	rs202028128	0.00024
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)	rs367848204	0.00017
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)	rs146237009	0.00014
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)	rs146933218	0.00012
NM_017739.4(POMGNT1):c.652+6G>A	rs369289384	0.00011
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	rs386834010	0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)	rs375432782	0.00004
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)	rs569061665	0.00003
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	rs200730202	0.00001

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.