ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.*2771A>G

gnomAD frequency: 0.00004  dbSNP: rs747304113
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001699899 SCV004165439 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing LAMP2: BS2
Clinical Genetics, Academic Medical Center RCV001699899 SCV001919705 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699899 SCV001929024 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699899 SCV001956850 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699899 SCV001970448 likely benign not provided no assertion criteria provided clinical testing

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