Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "likely benign" from Athena Diagnostics

Minimum review status of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:		Collection method of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:
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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)	rs200130356	0.00086
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)	rs199793620	0.00034
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)	rs201490050	0.00032
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)	rs149278000	0.00020

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.