ClinVar Miner

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

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Total submissions: 8
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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

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