Submissions for variant NM_001267550.2(TTN):c.40408+8del

dbSNP: rs727504922

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156312	SCV000206030	benign	not specified	2014-07-16	criteria provided, single submitter	clinical testing	Benign based on high frequency in ESP (6% EA)
Illumina Laboratory Services, Illumina	RCV000269919	SCV000423475	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000313427	SCV000423476	uncertain significance	Tibial muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370386	SCV000423477	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273584	SCV000423478	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331036	SCV000423479	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374050	SCV000423480	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000156312	SCV000565639	benign	not specified	2015-09-24	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.
Athena Diagnostics	RCV000156312	SCV000616071	benign	not specified	2016-11-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524765	SCV000643119	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000156312	SCV000701141	likely benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770046	SCV000901472	benign	Cardiomyopathy	2017-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002292441	SCV001246183	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TTN: BP4
Blueprint Genetics	RCV000157574	SCV000207320	uncertain significance	Left ventricular noncompaction cardiomyopathy	2014-01-23	no assertion criteria provided	clinical testing