Submissions for variant NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)

gnomAD frequency: 0.00004  dbSNP: rs776018262

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475361	SCV000542628	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-08-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000517592	SCV000616179	uncertain significance	not specified	2017-05-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001530075	SCV002504437	likely benign	not provided	2019-01-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530075	SCV001744662	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001530075	SCV001800296	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001530075	SCV001918924	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530075	SCV001975331	uncertain significance	not provided		no assertion criteria provided	clinical testing