Submissions for variant NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)

gnomAD frequency: 0.00001  dbSNP: rs377074955

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000249513	SCV000317482	likely benign	Cardiovascular phenotype	2013-04-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000560527	SCV000642884	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001699276	SCV001988668	uncertain significance	not provided	2019-04-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001699276	SCV003822320	uncertain significance	not provided	2020-12-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699276	SCV001920964	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001699276	SCV001963314	uncertain significance	not provided		no assertion criteria provided	clinical testing