Submissions for variant NM_001267550.2(TTN):c.33911-6_33911-5insG

gnomAD frequency: 0.00022  dbSNP: rs765503214

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221982	SCV000272636	uncertain significance	not specified	2016-06-14	criteria provided, single submitter	clinical testing	The c.30179-6_30179-5insG variant in TTN has not been previously reported in ind ividuals with cardiomyopathy, but has been identified in 3/66294 European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs765503214). This variant is located in the 3' splice region. Computatio nal tools suggest a slight impact to splicing. However, this information is not predictive enough to determine pathogenicity. In summary, the clinical significa nce of the c.30179-6_30179-5insG variant is uncertain.
Eurofins Ntd Llc (ga)	RCV000725194	SCV000334829	uncertain significance	not provided	2015-09-10	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000725194	SCV001146376	uncertain significance	not provided	2018-10-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478775	SCV002785345	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2022-04-26	criteria provided, single submitter	clinical testing
Invitae	RCV002518224	SCV003258962	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-22	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725194	SCV003820170	uncertain significance	not provided	2023-05-23	criteria provided, single submitter	clinical testing