Submissions for variant NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)

gnomAD frequency: 0.00265  dbSNP: rs72647845

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000040947	SCV000055122	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040947	SCV000064638	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Pro324Ser in Exon 07 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (41/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs72647845).
GeneDx	RCV001703918	SCV000236753	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362, 22863191)
Ambry Genetics	RCV000249588	SCV000318581	benign	Cardiovascular phenotype	2019-09-19	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Eurofins Ntd Llc (ga)	RCV000040947	SCV000342148	benign	not specified	2016-09-06	criteria provided, single submitter	clinical testing
Invitae	RCV000459552	SCV000555655	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040947	SCV000616193	benign	not specified	2017-01-24	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769142	SCV000900516	likely benign	Cardiomyopathy	2017-03-16	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852946	SCV000995692	benign	Cardiomyopathy; Long QT syndrome	2019-06-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040947	SCV001432081	likely benign	not specified	2020-08-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839765	SCV002101655	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839766	SCV002101657	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839767	SCV002101658	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839764	SCV002101659	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040947	SCV001924829	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000040947	SCV001975077	benign	not specified		no assertion criteria provided	clinical testing