Variants with conflicting interpretations "likely pathogenic" from New York Genome Center and "uncertain significance" from any submitter

Minimum review status of the submission from New York Genome Center:		Collection method of the submission from New York Genome Center:
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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)	rs147622852	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)	rs2054200789
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)	rs886041670
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	rs751575036
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_006895.3(HNMT):c.475del (p.His159fs)	rs765863580
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)	rs2148725999
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)	rs1786845541
Single allele

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.