Submissions for variant NM_001267550.2(TTN):c.38880A>G (p.Pro12960=)

gnomAD frequency: 0.02192  dbSNP: rs2742354

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464256	SCV000555447	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-02-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993432	SCV001146394	benign	not provided	2018-12-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000993432	SCV001902024	benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840595	SCV002101266	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840596	SCV002101267	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840597	SCV002101268	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840594	SCV002101271	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000993432	SCV005240813	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796064	SCV002036791	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796064	SCV002038262	benign	not specified		no assertion criteria provided	clinical testing