Submissions for variant NM_001267550.2(TTN):c.10854A>C (p.Gln3618His)

gnomAD frequency: 0.00365  dbSNP: rs79466278

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041117	SCV000064808	benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing	p.Gln3447His in exon 44B of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1% (106/9800) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs79466278).
GeneDx	RCV000041117	SCV000238081	benign	not specified	2015-06-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232467	SCV000286428	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839869	SCV002100902	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839870	SCV002100903	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839871	SCV002100904	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001839868	SCV002100905	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003326340	SCV004033837	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003326340	SCV005241382	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000041117	SCV001800320	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041117	SCV001921590	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041117	SCV001954331	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041117	SCV001969266	benign	not specified		no assertion criteria provided	clinical testing