Submissions for variant NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe)

dbSNP: rs878969676

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV001528404	SCV002770568	uncertain significance	not provided	2021-07-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488348	SCV002780697	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2022-04-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001528404	SCV003819726	uncertain significance	not provided	2020-09-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001528404	SCV004036913	uncertain significance	not provided	2023-09-22	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528404	SCV001740102	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001528404	SCV001800271	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001528404	SCV001921831	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528404	SCV001976146	uncertain significance	not provided		no assertion criteria provided	clinical testing