Submissions for variant NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) (rs118079537)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 9

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000172233	SCV000051123	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Illumina Clinical Services Laboratory,Illumina	RCV000273088	SCV000421357	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000328290	SCV000421358	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000387397	SCV000421359	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000295809	SCV000421360	uncertain significance	Myopathy, early-onset, with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000332094	SCV000421361	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000372796	SCV000421362	uncertain significance	Distal myopathy Markesbery-Griggs type	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000172233	SCV000555625	likely benign	not provided	2018-08-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000616323	SCV000714031	likely benign	not specified	2017-07-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.