Submissions for variant NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) (rs55977045)

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Total submissions: 13

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000040873	SCV000064564	benign	not specified	2012-01-03	criteria provided, single submitter	clinical testing	Glu30297Glu in exon 301 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.7% (115/6648) of E uropean American chromosomes and 0.5% (14/3098) of African American chromosomes from a broad, though clinically unspecified population (NHLBI Exome Sequencing P roject; http://evs.gs.washington.edu/EVS; rs55977045).
Genetic Services Laboratory, University of Chicago	RCV000040873	SCV000153412	benign	not specified	2013-08-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000040873	SCV000169447	benign	not specified	2013-04-27	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	RCV000203917	SCV000261584	benign	Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J	2017-08-07	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000040873	SCV000315615	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000254322	SCV000318359	benign	Cardiovascular phenotype	2013-03-06	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000307764	SCV000420433	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000362478	SCV000420434	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000405322	SCV000420435	uncertain significance	Myopathy, early-onset, with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000313346	SCV000420436	uncertain significance	Distal myopathy Markesbery-Griggs type	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000368001	SCV000420437	uncertain significance	Hereditary myopathy with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000273359	SCV000420438	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756836	SCV000884769	benign	not provided	2017-05-24	criteria provided, single submitter	clinical testing

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