Variants with conflicting interpretations "benign" from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire and "uncertain significance" from any submitter

Minimum review status of the submission from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire:		Collection method of the submission from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire:
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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)	rs146400809	0.00088
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)	rs200193877	0.00024
NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu)	rs371050880	0.00020
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	rs369717556	0.00010
NM_001382273.1(TNK2):c.1777G>A (p.Val593Met)	rs375205272	0.00009
NM_004714.3(DYRK1B):c.625G>A (p.Val209Ile)	rs556237495	0.00001

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.