ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.65-13T>A

gnomAD frequency: 0.00004  dbSNP: rs727503121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150914 SCV000198533 uncertain significance not specified 2014-11-03 criteria provided, single submitter clinical testing The c.65-13T>A variant in LAMP2 has not been previously reported in individuals with cardiomyopathy. Data from large population studies are insufficient to asse ss the frequency of this variant. This variant is located in the 3' splice regio n. Computational tools do not suggest an impact to splicing. However, this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the c.65-13T>A variant is uncertain.
GeneDx RCV000150914 SCV000728633 likely benign not specified 2017-10-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002055977 SCV002491278 likely benign Danon disease 2024-01-18 criteria provided, single submitter clinical testing

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