ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.300G>A (p.Ala100=)

gnomAD frequency: 0.00003  dbSNP: rs765548221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514716 SCV001722628 benign Danon disease 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434159 SCV002753322 likely benign Cardiovascular phenotype 2019-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV003438541 SCV004165448 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing LAMP2: BP4, BP7, BS2

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