Submissions for variant NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)

gnomAD frequency: 0.00274  dbSNP: rs72646840

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040418	SCV000064109	benign	not specified	2015-05-06	criteria provided, single submitter	clinical testing	p.Pro17204Leu in exon 249 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.0% (99/9780) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72646840).
Eurofins Ntd Llc (ga)	RCV000040418	SCV000114415	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001572698	SCV000237353	likely benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000241577	SCV000319192	benign	Cardiovascular phenotype	2013-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000476235	SCV000555374	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000040418	SCV000597649	likely benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000040418	SCV000616113	benign	not specified	2017-05-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000040418	SCV001821477	likely benign	not specified	2021-08-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839645	SCV002101124	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839646	SCV002101126	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839647	SCV002101127	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839644	SCV002101128	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001572698	SCV004564976	benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572698	SCV005074471	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TTN: BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000040418	SCV001744791	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572698	SCV001797463	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000040418	SCV001924592	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572698	SCV001966368	likely benign	not provided		no assertion criteria provided	clinical testing