Variants in gene combination RTEL1, RTEL1-TNFRSF6B with conflicting interpretations reported as "pathogenic and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001283009.2(RTEL1):c.3110-2A>T	rs377461417	0.00006
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)	rs961593162	0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)	rs773025155	0.00001
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)	rs1449687529
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)	rs1363658406
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)	rs780546933
NM_001283009.2(RTEL1):c.901_919+72del	rs1569090870

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.