Variants in gene combination TBCEL-TECTA, TECTA 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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005422.4(TECTA):c.327C>T (p.Gly109=)	rs727504830	0.00026
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)	rs199638531	0.00011
NM_005422.4(TECTA):c.6162+1G>A	rs1045921265	0.00003
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)	rs140236996	0.00001
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)	rs121909059
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)	rs121909063
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)	rs878853224

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.