Submissions for variant NM_001267550.2(TTN):c.86934C>T (p.Val28978=)

gnomAD frequency: 0.00001  dbSNP: rs531340219

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217527	SCV000271097	likely benign	not specified	2015-04-15	criteria provided, single submitter	clinical testing	p.Val26410Val in exon 276 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 3/66534 European chromosomes and 2/8482 East Asian chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org).
Ambry Genetics	RCV000618666	SCV000736076	likely benign	Cardiovascular phenotype	2017-10-20	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.
Invitae	RCV000864019	SCV001004760	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001529124	SCV001781651	likely benign	not provided	2021-06-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150107	SCV003838526	likely benign	Cardiomyopathy	2021-09-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529124	SCV004150242	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529124	SCV001742054	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529124	SCV001952532	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529124	SCV001964214	likely benign	not provided		no assertion criteria provided	clinical testing