Variants with conflicting interpretations "pathogenic" from Lifecell International Pvt. Ltd and "uncertain significance" from any submitter

Minimum review status of the submission from Lifecell International Pvt. Ltd:		Collection method of the submission from Lifecell International Pvt. Ltd:
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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	rs200688985	0.00001
NM_003172.4(SURF1):c.324-11T>G	rs375398247
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)	rs1563920252
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861

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.