Submissions for variant NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)

dbSNP: rs72677221

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152351	SCV000114393	likely benign	not specified	2017-07-05	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152351	SCV000201263	benign	not specified	2018-04-18	criteria provided, single submitter	clinical testing	p.Ala12450Val in exon 193 of TTN: This variant is classified as benign because i t has been identified in 0.5% (198/34230) of Latino chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs72677221) . ACMG/AMP Criteria applied: BA1.
GeneDx	RCV001704007	SCV000237180	likely benign	not provided	2020-12-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28771489)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474807	SCV000555216	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000152351	SCV000616087	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618391	SCV000736568	likely benign	Cardiovascular phenotype	2016-04-25	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.
Genome-Nilou Lab	RCV001839883	SCV002100700	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839884	SCV002100701	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839885	SCV002100702	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839882	SCV002100703	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000152351	SCV004038624	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704007	SCV004152419	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TTN: BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001704007	SCV005259514	likely benign	not provided		criteria provided, single submitter	not provided