Submissions for variant NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) (rs68080670)

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Total submissions: 14

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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	RCV000040944	SCV000051758	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000040944	SCV000064635	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000040944	SCV000169471	benign	not specified	2017-02-22	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.
Invitae	RCV000231098	SCV000286405	benign	Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J	2017-08-03	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000040944	SCV000315643	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244925	SCV000318088	benign	Cardiovascular phenotype	2013-05-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000336579	SCV000420073	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000402951	SCV000420074	likely benign	Hereditary myopathy with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000296735	SCV000420075	likely benign	Myopathy, early-onset, with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000351463	SCV000420076	likely benign	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000403378	SCV000420077	likely benign	Distal myopathy Markesbery-Griggs type	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000311858	SCV000420078	likely benign	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000040944	SCV000153434	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics	RCV000677191	SCV000803296	likely pathogenic	Limb-girdle muscular dystrophy, type 2J	2018-07-18	no assertion criteria provided	clinical testing	The observed variant c.104576G>A (p.Arg34859Gln) has a minor allele frequency of 0.0036 and 0.0130 in 1000 Genomes and ExAC databases respectively. The in silico prediction of the given variant is disease causing by MutationTaster2, and damaging by SIFT.

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