Submissions for variant NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)

gnomAD frequency: 0.00014  dbSNP: rs371656672

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040885	SCV000064576	likely benign	not specified	2012-07-25	criteria provided, single submitter	clinical testing	Leu30546Leu in exon 304 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/8232 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Leu30546Leu in exon 304 of TTN (allele fr equency =1/8232) **
Eurofins Ntd Llc (ga)	RCV000725601	SCV000338079	uncertain significance	not provided	2016-03-02	criteria provided, single submitter	clinical testing
Invitae	RCV001079868	SCV000555472	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000725601	SCV000720348	likely benign	not provided	2020-09-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000040885	SCV001160342	likely benign	not specified	2019-01-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000040885	SCV001879730	likely benign	not specified	2021-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798206	SCV002043096	likely benign	Cardiomyopathy	2022-06-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371851	SCV002670214	likely benign	Cardiovascular phenotype	2018-03-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV000725601	SCV004033794	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040885	SCV004039455	likely benign	not specified	2023-08-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040885	SCV001917513	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725601	SCV001968474	likely benign	not provided		no assertion criteria provided	clinical testing