ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.813A>G (p.Leu271=)

gnomAD frequency: 0.00001  dbSNP: rs876657485
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Total submissions: 1
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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 RCV000220594 SCV000270342 likely benign not specified 2015-06-03 criteria provided, single submitter clinical testing p.Leu271Leu in exon 6 of LAMP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.

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