Submissions for variant NM_001267550.2(TTN):c.38708-4T>C

dbSNP: rs200819643

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083904	SCV000286625	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000426031	SCV000516000	likely benign	not specified	2015-06-24	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 Inc	RCV000229974	SCV001146391	benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000229974	SCV001472761	benign	not provided	2023-11-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840413	SCV002101276	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840414	SCV002101277	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840415	SCV002101278	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840412	SCV002101279	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000229974	SCV003916193	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000229974	SCV001739895	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000426031	SCV001964966	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000229974	SCV002036177	likely benign	not provided		no assertion criteria provided	clinical testing