Variants with conflicting interpretations "uncertain significance" from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix and "benign" from any submitter

Minimum review status of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:		Collection method of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:
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: 5

Download table as spreadsheet

HGVS	dbSNP
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)	rs730882103
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	rs72658865
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	rs138477254
NM_174936.3(PCSK9):c.1773C>G (p.His591Gln)	rs529912877
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)	rs28362261

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.