Submissions for variant NM_001267550.2(TTN):c.74965G>A (p.Val24989Met)

gnomAD frequency: 0.00001  dbSNP: rs567800207

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000273418	SCV000237540	likely benign	not specified	2017-06-20	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.
Eurofins Ntd Llc (ga)	RCV000273418	SCV000335298	likely benign	not specified	2015-09-10	criteria provided, single submitter	clinical testing
Invitae	RCV000539602	SCV000643661	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171270	SCV001333979	benign	Cardiomyopathy	2018-02-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840307	SCV002100217	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840308	SCV002100218	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840309	SCV002100219	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840306	SCV002100220	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327007	SCV002633746	likely benign	Cardiovascular phenotype	2019-12-23	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000273418	SCV004038657	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795304	SCV004701623	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: BS2
PreventionGenetics, part of Exact Sciences	RCV004537554	SCV004754799	likely benign	TTN-related disorder	2022-06-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001795304	SCV002034645	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795304	SCV002036188	likely benign	not provided		no assertion criteria provided	clinical testing