Submissions for variant NM_002294.3(LAMP2):c.42C>T (p.Leu14=)

gnomAD frequency: 0.00009  dbSNP: rs727503122

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150915	SCV000198535	likely benign	not specified	2014-06-13	criteria provided, single submitter	clinical testing	Leu14Leu in exon 1 of LAMP2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
Invitae	RCV001079410	SCV000636863	likely benign	Danon disease	2024-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326863	SCV002626727	likely benign	Cardiovascular phenotype	2019-11-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV000150915	SCV001926046	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000535295	SCV001931720	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000535295	SCV001979469	likely benign	not provided		no assertion criteria provided	clinical testing