Submissions for variant NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)

gnomAD frequency: 0.00026  dbSNP: rs368781863

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152368	SCV000201294	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Pro10314Pro in exon 148 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (7/6556) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000152368	SCV000336063	likely benign	not specified	2015-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415765	SCV000493404	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
GeneDx	RCV000415765	SCV000515120	likely benign	not provided	2021-05-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085957	SCV000643033	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000415765	SCV001146380	benign	not provided	2019-01-10	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000415765	SCV001160322	likely benign	not provided	2021-01-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486681	SCV004239895	likely benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000415765	SCV001739524	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000152368	SCV001919312	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000415765	SCV001966546	likely benign	not provided		no assertion criteria provided	clinical testing