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

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Total submissions: 9

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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
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.
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	Hereditary myopathy 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	RCV000470358	SCV000555625	likely benign	Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J	2017-04-12	criteria provided, single submitter	clinical testing

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