ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.929-9del

dbSNP: rs1338648665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112647 SCV002400570 benign Danon disease 2021-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893314 SCV004716569 likely benign LAMP2-related disorder 2020-10-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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