Submissions for variant NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile)

gnomAD frequency: 0.00051  dbSNP: rs142841000

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549854	SCV000643410	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2018-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000600882	SCV000714784	likely benign	not specified	2017-10-11	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852838	SCV000995568	likely benign	Cardiomyopathy	2017-03-17	criteria provided, single submitter	clinical testing
New York Genome Center	RCV004799217	SCV001468749	uncertain significance	Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2019-07-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438407	SCV002753371	likely benign	Cardiovascular phenotype	2019-06-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.