ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=)

gnomAD frequency: 0.00157  dbSNP: rs771501846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000392138 SCV000332650 uncertain significance not provided 2015-12-02 criteria provided, single submitter clinical testing
Invitae RCV000392138 SCV001005515 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000392138 SCV004129374 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MAGEL2: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center RCV000392138 SCV001924016 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000392138 SCV001969584 likely benign not provided no assertion criteria provided clinical testing

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