Submissions for variant NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] (rs193922648)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000037402	SCV000061059	likely benign	not specified	2011-08-23	criteria provided, single submitter	clinical testing	-23_-15delGTCGCCGCC in exon 1 of LAMP2: This variant is located in the 5?untrans lated region (5?UTR) of the LAMP2 gene. It has not been reported in the literat ure but has been detected by our lab in at least 1% of individuals sequenced. A t this frequency this variant is most likely benign although we cannot exclude a modifying role.
GeneDx	RCV000157958	SCV000207893	benign	Danon disease; Cardiomyopathy	2012-12-04	criteria provided, single submitter	clinical testing	The variant is found in HCM panel(s).
PreventionGenetics,PreventionGenetics	RCV000037402	SCV000308814	benign	not specified		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030112	SCV000052767	benign	Primary familial hypertrophic cardiomyopathy	2015-05-20	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613856	SCV000734736	benign	Danon disease		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675451	SCV000801133	likely benign	not provided	2017-04-18	no assertion criteria provided	clinical testing
Clinical Genetics,Academic Medical Center	RCV000037402	SCV001925860	benign	not specified		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV000037402	SCV001959672	benign	not specified		no assertion criteria provided	clinical testing