Submissions for variant NM_001267550.2(TTN):c.63981A>G (p.Val21327=)

gnomAD frequency: 0.00001  dbSNP: rs397517656

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040474	SCV000064165	likely benign	not specified	2012-08-22	criteria provided, single submitter	clinical testing	Val18759Val in exon 256 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. Val18759Val in exon 256 of TTN (allele freq uency = n/a)
Eurofins Ntd Llc (ga)	RCV000040474	SCV000706088	likely benign	not specified	2017-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001707516	SCV000721001	likely benign	not provided	2020-07-13	criteria provided, single submitter	clinical testing
Invitae	RCV000959367	SCV001106270	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839665	SCV002101050	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839666	SCV002101051	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839667	SCV002101052	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839664	SCV002101053	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453333	SCV002615756	likely benign	Cardiovascular phenotype	2018-07-09	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486591	SCV004240057	benign	Cardiomyopathy	2023-06-19	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001707516	SCV001953459	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001707516	SCV001972707	likely benign	not provided		no assertion criteria provided	clinical testing