Submissions for variant NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)

dbSNP: rs557350005

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155965	SCV000205677	likely benign	not specified	2013-09-13	criteria provided, single submitter	clinical testing	Pro4781Pro in exon 59 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Pro4781Pro in exon 59 of TTN (allele frequenc y = n/a)
Invitae	RCV000539068	SCV000642747	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000155965	SCV000725805	likely benign	not specified	2017-12-13	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769073	SCV000900446	benign	Cardiomyopathy	2017-10-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840172	SCV002099994	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840173	SCV002099995	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840174	SCV002099996	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840171	SCV002099997	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529672	SCV001743516	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000155965	SCV001918966	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529672	SCV001972248	likely benign	not provided		no assertion criteria provided	clinical testing