ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.276C>T (p.Phe92=)

gnomAD frequency: 0.00003  dbSNP: rs754577706
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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 RCV000220890 SCV000270339 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Phe92Phe in exon 3 of LAMP2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/47990 European ch romosomes and 1/9321 Latino chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org).
Invitae RCV000638584 SCV000760116 likely benign Danon disease 2023-09-30 criteria provided, single submitter clinical testing
GeneDx RCV001658013 SCV001881462 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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