Submissions for variant NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)

gnomAD frequency: 0.00024  dbSNP: rs370479059

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040768	SCV000064459	likely benign	not specified	2012-01-31	criteria provided, single submitter	clinical testing	p.Asn27640Asn in exon 284 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/6690 European American chromosomes and 1/3214 African American chromosomes by the NHLBI Exome sequencing project in a broad population (http://evs.gs.washington.edu/EVS).
Invitae	RCV001083455	SCV000286904	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251412	SCV000318994	likely benign	Cardiovascular phenotype	2013-10-16	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.
GeneDx	RCV000727784	SCV000515179	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727784	SCV000855181	uncertain significance	not provided	2017-09-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000727784	SCV000884801	likely benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769888	SCV000901314	likely benign	Cardiomyopathy	2019-09-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727784	SCV004150235	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000040768	SCV001923608	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000727784	SCV001928983	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727784	SCV001965046	likely benign	not provided		no assertion criteria provided	clinical testing